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Entry
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- *617083 - DYNEIN, CYTOPLASMIC 2, LIGHT INTERMEDIATE CHAIN 1; DYNC2LI1
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- OMIM
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<p>
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<span class="h4">*617083</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</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/617083">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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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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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=ENSG00000138036;t=ENST00000260605" 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=51626" 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=617083" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000138036;t=ENST00000260605" 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_001193464,NM_001348912,NM_001348913,NM_015522,NM_016008" 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_016008" 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=617083" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/DYNC2LI1" 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/4884075,4929589,13937753,16740931,19908231,26252194,29824427,37590445,40548413,62822153,62898425,74715850,119620694,119620695,119620696,194376484,301500723,1148487641,1148487657" 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/Q8TCX1" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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<div 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=51626" 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=ENSG00000138036;t=ENST00000260605" 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=DYNC2LI1" 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=DYNC2LI1" 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+51626" 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/DYNC2LI1" 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:51626" 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/51626" 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=chr2&hgg_gene=ENST00000260605.12&hgg_start=43774039&hgg_end=43828347&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=617083[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=617083[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/ENSG00000138036" 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=DYNC2LI1" 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=DYNC2LI1" 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=DYNC2LI1" 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=DYNC2LI1&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/PA142671919" 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:24595" 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/FBgn0032119.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:1913996" 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/DYNC2LI1#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:1913996" 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/51626/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=51626" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00006960;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1230" 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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:51626" 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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<div><a href="https://reactome.org/content/query?q=DYNC2LI1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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617083
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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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DYNEIN, CYTOPLASMIC 2, LIGHT INTERMEDIATE CHAIN 1; DYNC2LI1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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DYNEIN 2, LIGHT INTERMEDIATE CHAIN; D2LIC<br />
|
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LIGHT INTERMEDIATE CHAIN 3; LIC3
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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=DYNC2LI1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DYNC2LI1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
|
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/2/217?start=-3&limit=10&highlight=217">2p21</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:43774039-43828347&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'})">2:43,774,039-43,828,347</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/2/217?start=-3&limit=10&highlight=217">
|
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2p21
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Short-rib thoracic dysplasia 15 with polydactyly
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/617088"> 617088 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/617083" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/617083" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Dyneins are large, multisubunit motor proteins that are involved in a wide variety of cellular processes. Cytoplasmic dyneins are involved in vesicle transport, formation and localization of the Golgi complex, mitotic spindle assembly and positioning, nuclear migration, and chromosome movement. DYNC2LI1 is a light intermediate chain of the cytoplasmic dynein-2 complex and interacts directly with the heavy chain, DHC2 (DYNC2H1; <a href="/entry/603297">603297</a>) (<a href="#3" class="mim-tip-reference" title="Grissom, P. M., Vaisberg, E. A., McIntosh, J. R. <strong>Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2.</strong> Molec. Biol. Cell 13: 817-829, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11907264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11907264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11907264[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/10.1091/mbc.01-08-0402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11907264">Grissom et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11907264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By microsequencing a 33-kD protein that coimmunoprecipitated with Dhc2 from COS-7 cells, followed by database analysis, <a href="#3" class="mim-tip-reference" title="Grissom, P. M., Vaisberg, E. A., McIntosh, J. R. <strong>Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2.</strong> Molec. Biol. Cell 13: 817-829, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11907264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11907264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11907264[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/10.1091/mbc.01-08-0402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11907264">Grissom et al. (2002)</a> identified human DYNC2LI1, which they called D2LIC. The predicted 351-amino acid human protein contains an N-terminal P-loop and a C-terminal coiled-coil region. The human protein shares homology with dynein-1 light intermediate chains from other species, particularly in the N terminus. D2LIC orthologs are present in mouse, worm, fly, and algae. Northern blot analysis detected a 1.6-kb D2LIC transcript in HeLa cells and COS-7 cells. Western blot analysis showed expression of a 39-kD protein in COS-7 cells. Western blot analysis of mouse tissues revealed highest expression of D2lic in testis, with lower levels in kidney, brain, lung, and liver, and no expression heart. Immunocytochemical analysis of COS-7 cells demonstrated expression of D2lic in Golgi apparatus and colocalization with Dhc2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11907264" 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 database analysis, <a href="#6" class="mim-tip-reference" title="Mikami, A., Tynan, S. H., Hama, T., Luby-Phelps, K., Saito, T., Crandall, J. E., Besharse, J. C., Vallee, R. B. <strong>Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells.</strong> J. Cell Sci. 115: 4801-4808, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12432068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12432068</a>] [<a href="https://doi.org/10.1242/jcs.00168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12432068">Mikami et al. (2002)</a> identified rat Dync2li1, which they termed Lic3. Immunohistochemical analysis demonstrated expression of Dhc2 and Lic3 in neonatal and adult mouse brain, particularly in the ependymal layer lining the lateral ventricles. Dhc2 and Lic3 were also expressed in a punctate manner in connecting cilia of bovine retina and in primary cilia of rat kidney epithelial cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12432068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using quantitative RT-PCR for transcriptional analysis in a series of 16-week fetal tissues, <a href="#9" class="mim-tip-reference" title="Taylor, S. P., Dantas, T. J., Duran, I., Wu, S., Lachman, R. S., University of Washington Center for Mendelian Genomics Consortium, Nelson, S. F., Cohn, D. H., Vallee, R. B., Krakow, D. <strong>Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.</strong> Nature Commun. 6: 7092, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26077881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26077881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26077881[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/10.1038/ncomms8092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26077881">Taylor et al. (2015)</a> observed that DYNC2LI1 was more highly expressed in bone than in other embryonic tissues such as brain, cartilage, heart, liver, lung, placenta, and thymus. Immunohistochemistry of human cartilage growth plate revealed DYNC2LI1 expression in the perichondrium, periosteum, and primary spongiosa of bone. In addition, immunohistochemistry of DYNC2H1 (<a href="/entry/603297">603297</a>) and WDR34 (<a href="/entry/613363">613363</a>) showed an overlapping expression pattern. <a href="#9" class="mim-tip-reference" title="Taylor, S. P., Dantas, T. J., Duran, I., Wu, S., Lachman, R. S., University of Washington Center for Mendelian Genomics Consortium, Nelson, S. F., Cohn, D. H., Vallee, R. B., Krakow, D. <strong>Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.</strong> Nature Commun. 6: 7092, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26077881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26077881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26077881[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/10.1038/ncomms8092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26077881">Taylor et al. (2015)</a> concluded that their findings supported a role for DYNC2LI1 and the dynein-2 complex in human skeletal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26077881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Kessler, K., Wunderlich, I., Uebe, S., Falk, N. S., Giessl, A., Brandstatter, J. H., Popp, B., Klinger, P., Ekici, A. B., Sticht, H., Door, H.-G., Reis, A., Roepman, R., Seemanova, E., Thiel, C. T. <strong>DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.</strong> Sci. Rep. 5: 11649, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26130459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26130459</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26130459[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/10.1038/srep11649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26130459">Kessler et al. (2015)</a> analyzed expression levels of DYNC2LI1 in adult and fetal tissues and found the highest expression levels in chondrocytes, brain, and kidney. No differences between fetal and adult tissues were observed except for higher fetal expression in brain, kidney, and lungs. The authors noted that all 3 isoforms were expressed in the examined tissues, with highest contribution from the 2 longest isoforms. By immunofluorescence in ciliated fibroblasts, <a href="#5" class="mim-tip-reference" title="Kessler, K., Wunderlich, I., Uebe, S., Falk, N. S., Giessl, A., Brandstatter, J. H., Popp, B., Klinger, P., Ekici, A. B., Sticht, H., Door, H.-G., Reis, A., Roepman, R., Seemanova, E., Thiel, C. T. <strong>DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.</strong> Sci. Rep. 5: 11649, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26130459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26130459</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26130459[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/10.1038/srep11649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26130459">Kessler et al. (2015)</a> confirmed localization of the DYNC2LI1 protein to the cytoplasm and centrosomes, as well as around the basal body and transition zone of the primary cilium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26130459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Grissom, P. M., Vaisberg, E. A., McIntosh, J. R. <strong>Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2.</strong> Molec. Biol. Cell 13: 817-829, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11907264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11907264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11907264[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/10.1091/mbc.01-08-0402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11907264">Grissom et al. (2002)</a> stated that the DYNC2LI1 gene maps to chromosome 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11907264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 8/18/2016."None>Gross (2016)</a> mapped the DYNC2LI1 gene to chromosome 2p21 based on an alignment of the DYNC2LI1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF151818" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF151818</a>) with the genomic sequence (GRCh38).</p>
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<p>By immunoprecipitation analysis of COS-7 cells, <a href="#3" class="mim-tip-reference" title="Grissom, P. M., Vaisberg, E. A., McIntosh, J. R. <strong>Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2.</strong> Molec. Biol. Cell 13: 817-829, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11907264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11907264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11907264[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/10.1091/mbc.01-08-0402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11907264">Grissom et al. (2002)</a> confirmed the association of D2lic with Dhc2. Based on its localization in Golgi, <a href="#3" class="mim-tip-reference" title="Grissom, P. M., Vaisberg, E. A., McIntosh, J. R. <strong>Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2.</strong> Molec. Biol. Cell 13: 817-829, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11907264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11907264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11907264[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/10.1091/mbc.01-08-0402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11907264">Grissom et al. (2002)</a> proposed that D2LIC may play a role in maintaining Golgi organization by binding cytoplasmic dynein-2 to its Golgi-associated cargo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11907264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using immunologic and biochemical analyses, <a href="#6" class="mim-tip-reference" title="Mikami, A., Tynan, S. H., Hama, T., Luby-Phelps, K., Saito, T., Crandall, J. E., Besharse, J. C., Vallee, R. B. <strong>Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells.</strong> J. Cell Sci. 115: 4801-4808, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12432068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12432068</a>] [<a href="https://doi.org/10.1242/jcs.00168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12432068">Mikami et al. (2002)</a> showed that rat Lic3 associated with Dhc2. They presented evidence suggesting that dynein-2 is involved in generation and maintenance of cilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12432068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Perrone, C. A., Tritschler, D., Taulman, P., Bower, R., Yoder, B. K., Porter, M. E. <strong>A novel dynein light intermediate chain colocalizes with the retrograde motor for intraflagellar transport at sites of axoneme assembly in Chlamydomonas and mammalian cells.</strong> Molec. Biol. Cell 14: 2041-2056, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12802074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12802074</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12802074[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/10.1091/mbc.e02-10-0682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12802074">Perrone et al. (2003)</a> confirmed association of the DHC2 and D2LIC orthologs in algae and found that the complex was involved with other intraflagellar transport (IFT) components in both algae and mammalian cells. Their studies suggested that the DHC2/D2LIC complex is the retrograde IFT motor and is conserved throughout ciliated organisms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12802074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Taylor, S. P., Dantas, T. J., Duran, I., Wu, S., Lachman, R. S., University of Washington Center for Mendelian Genomics Consortium, Nelson, S. F., Cohn, D. H., Vallee, R. B., Krakow, D. <strong>Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.</strong> Nature Commun. 6: 7092, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26077881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26077881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26077881[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/10.1038/ncomms8092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26077881">Taylor et al. (2015)</a> performed RNAi against DYNC2LI1 in retinal epithelial (hTERT-RPE1) cells and observed significantly increased variation in cilia length, reproducing the phenotype observed in mutated fibroblasts (see <a href="#0001">617083.0001</a>). In addition, RNAi knockdown of DYNC2LI1 in RPE1 cells resulted in a 3-fold increase in the ratio of IFT88 (<a href="/entry/600595">600595</a>) retained in the primary cilium body relative to the proximal end. <a href="#9" class="mim-tip-reference" title="Taylor, S. P., Dantas, T. J., Duran, I., Wu, S., Lachman, R. S., University of Washington Center for Mendelian Genomics Consortium, Nelson, S. F., Cohn, D. H., Vallee, R. B., Krakow, D. <strong>Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.</strong> Nature Commun. 6: 7092, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26077881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26077881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26077881[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/10.1038/ncomms8092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26077881">Taylor et al. (2015)</a> concluded that DYNC2LI1 and the dynein-2 complex play an important role in regulation of primary cilia length, and that loss of DYNC2LI1 markedly impairs retrograde intraflagellar transport. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26077881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Kessler, K., Wunderlich, I., Uebe, S., Falk, N. S., Giessl, A., Brandstatter, J. H., Popp, B., Klinger, P., Ekici, A. B., Sticht, H., Door, H.-G., Reis, A., Roepman, R., Seemanova, E., Thiel, C. T. <strong>DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.</strong> Sci. Rep. 5: 11649, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26130459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26130459</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26130459[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/10.1038/srep11649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26130459">Kessler et al. (2015)</a> analyzed fibroblasts after siRNA knockdown of DYNC2LI1 and observed no significant difference in percentage of ciliated cells compared to control fibroblasts. However, the mutant fibroblasts had significantly shorter cilia than controls, and significantly more cilia exhibited altered morphology, with broadened ciliary tips. In addition, the DYNC2LI1-depleted cells showed accumulation of the IFT components IFT57 (<a href="/entry/606621">606621</a>) and IFT88 in the bulbous ciliary tip, confirming a retrograde IFT defect in those cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26130459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 fetuses from 3 unrelated families with short-rib thoracic dysplasia and polydactyly (SRTD15; <a href="/entry/617088">617088</a>), <a href="#9" class="mim-tip-reference" title="Taylor, S. P., Dantas, T. J., Duran, I., Wu, S., Lachman, R. S., University of Washington Center for Mendelian Genomics Consortium, Nelson, S. F., Cohn, D. H., Vallee, R. B., Krakow, D. <strong>Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.</strong> Nature Commun. 6: 7092, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26077881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26077881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26077881[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/10.1038/ncomms8092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26077881">Taylor et al. (2015)</a> identified compound heterozygosity for missense, nonsense, and splice site mutations in the DYNC2LI1 gene (<a href="#0001">617083.0001</a>-<a href="#0005">617083.0005</a>) that segregated with disease. Fetal fibroblasts exhibited loss of cilia length regulation, ciliary accumulation of IFT components, and aberrant Hedgehog (see SHH, <a href="/entry/600725">600725</a>) pathway activity, and the ciliary phenotype was rescued by wildtype DYNC2LI1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26077881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 1 of 3 sibs with SRTD and polydactyly, <a href="#5" class="mim-tip-reference" title="Kessler, K., Wunderlich, I., Uebe, S., Falk, N. S., Giessl, A., Brandstatter, J. H., Popp, B., Klinger, P., Ekici, A. B., Sticht, H., Door, H.-G., Reis, A., Roepman, R., Seemanova, E., Thiel, C. T. <strong>DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.</strong> Sci. Rep. 5: 11649, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26130459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26130459</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26130459[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/10.1038/srep11649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26130459">Kessler et al. (2015)</a> identified compound heterozygosity for a nonsense (<a href="#0006">617083.0006</a>) and a missense (<a href="#0007">617083.0007</a>) mutation in the DYNC2LI1 gene; DNA was unavailable from the 2 other affected sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26130459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 6 patients from 3 families with SRTD, <a href="#7" class="mim-tip-reference" title="Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A., Tartaglia, M. <strong>Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.</strong> Clin. Genet. 93: 632-639, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28857138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28857138</a>] [<a href="https://doi.org/10.1111/cge.13128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28857138">Niceta et al. (2018)</a> identified compound heterozygosity for mutations in the DYNC2LI1 gene (<a href="#0007">617083.0007</a>-<a href="#0011">617083.0011</a>). Noting the wide clinical spectrum exhibited by the patients, including 1 who died shortly after birth and 1 who was in the fifth decade of life, the authors suggested that the severity of the phenotype might depend on the extent of defective DYNC2LI1 function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28857138" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-year-old girl with SRTD and congenital short gut, <a href="#1" class="mim-tip-reference" title="Bryson, L. J., Flynn, D. M., Sabharwal, A., Ahmed, S. F., Kinning, E. <strong>A child with congenital short gut associated with DYNC2LI1 ciliopathy.</strong> Clin. Dysmorph. 30: 66-68, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32815859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32815859</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000341" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32815859">Bryson et al. (2021)</a> identified compound heterozygosity for a previously reported missense mutation in the DYNC1LI1 gene (L117V; <a href="#0001">617083.0001</a>) and a frameshift mutation (<a href="#0012">617083.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32815859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 fetuses from unrelated families with short-rib thoracic dysplasia and polydactyly (SRTD15; <a href="/entry/617088">617088</a>), <a href="#9" class="mim-tip-reference" title="Taylor, S. P., Dantas, T. J., Duran, I., Wu, S., Lachman, R. S., University of Washington Center for Mendelian Genomics Consortium, Nelson, S. F., Cohn, D. H., Vallee, R. B., Krakow, D. <strong>Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.</strong> Nature Commun. 6: 7092, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26077881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26077881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26077881[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/10.1038/ncomms8092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26077881">Taylor et al. (2015)</a> identified compound heterozygosity for mutations in the DYNC2LI1 gene. The first mutation was a c.349C-G transversion (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201948500;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs201948500</a>) in exon 6, resulting in a leu117-to-val (L117V) substitution at a conserved residue within an NTPase-related domain. In 1 fetus, the second mutation was a G-A transition in intron 12 (c.993+1G-A; <a href="#0002">617083.0002</a>), whereas in the other fetus, the second mutation was a c.372G-A transition in exon 6, resulting in a trp124-to-ter (W124X; <a href="#0003">617083.0003</a>) substitution. The unaffected parents in both families were each heterozygous for 1 of the mutations. Western blot analyses of fibroblast-derived lysates from both fetuses showed that DYNC2LI1 was markedly reduced, indicating that the mutations likely lead to loss of DYNC2LI1 stability. In addition, RT-PCR analysis of RNA derived from fibroblasts of the fetus with the splice site mutation demonstrated in-frame skipping of exon 12. Although the percentage of ciliated cells was only slightly reduced between fetal and control cells, <a href="#9" class="mim-tip-reference" title="Taylor, S. P., Dantas, T. J., Duran, I., Wu, S., Lachman, R. S., University of Washington Center for Mendelian Genomics Consortium, Nelson, S. F., Cohn, D. H., Vallee, R. B., Krakow, D. <strong>Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.</strong> Nature Commun. 6: 7092, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26077881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26077881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26077881[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/10.1038/ncomms8092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26077881">Taylor et al. (2015)</a> found that primary cilia length was highly variable in mutant fibroblasts compared to controls, with a substantial increase in the number of hyperelongated cilia up to 20 micrometers in length. Intraflagellar transport components IFT88 (<a href="/entry/600595">600595</a>), TRAF3IP1 (<a href="/entry/607380">607380</a>), and KIF3A (<a href="/entry/604683">604683</a>) all accumulated near the cilia tip in fetal fibroblasts, with 3- to 4-fold more IFT88 retained in the axonemes of mutant cilia compared to controls; this ratio, indicative of defective retrograde transport, was reduced by the expression of wildtype DYNC2LI1 in fetal fibroblasts. In addition, abnormal distribution of SMO (SMOH; <a href="/entry/601500">601500</a>) into cilia of unstimulated mutant fibroblasts, as well as altered ratios of full-length to repressor GLI3 (<a href="/entry/165240">165240</a>), indicated impaired regulation of Hedgehog (see SHH, <a href="/entry/600725">600725</a>) signaling in the fetuses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26077881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-year-old girl who had SRTD with 4-limb postaxial polydactyly and congenital short gut, <a href="#1" class="mim-tip-reference" title="Bryson, L. J., Flynn, D. M., Sabharwal, A., Ahmed, S. F., Kinning, E. <strong>A child with congenital short gut associated with DYNC2LI1 ciliopathy.</strong> Clin. Dysmorph. 30: 66-68, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32815859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32815859</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000341" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32815859">Bryson et al. (2021)</a> identified compound heterozygosity for the L117V mutation in the DYNC1LI1 gene and a 2-bp deletion (c.18_19del; <a href="#0012">617083.0012</a>), causing a frameshift predicted to result in a premature termination codon (Trp7GlyfsTer6). Familial segregation was not reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32815859" 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> rs374356079 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs374356079;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/rs374356079?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=rs374356079" 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=rs374356079" 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=RCV000239722 OR RCV000754095 OR RCV001853127" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239722, RCV000754095, RCV001853127" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239722...</a>
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<p>For discussion of the c.993+1G-A transition in intron 12 of the DYNC2LI1 gene that was found in compound heterozygous state in a fetus with short-rib thoracic dysplasia and polydactyly (SRTD15; <a href="/entry/617088">617088</a>) by <a href="#9" class="mim-tip-reference" title="Taylor, S. P., Dantas, T. J., Duran, I., Wu, S., Lachman, R. S., University of Washington Center for Mendelian Genomics Consortium, Nelson, S. F., Cohn, D. H., Vallee, R. B., Krakow, D. <strong>Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.</strong> Nature Commun. 6: 7092, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26077881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26077881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26077881[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/10.1038/ncomms8092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26077881">Taylor et al. (2015)</a>, see <a href="#0001">617083.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26077881" 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> rs769975073 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs769975073;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/rs769975073?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=rs769975073" 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=rs769975073" 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=RCV000239657 OR RCV000754097 OR RCV001853128" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239657, RCV000754097, RCV001853128" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239657...</a>
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<p>For discussion of the c.372G-A transition in exon 6 of the DYNC2LI1 gene, resulting in a trp124-to-ter (W124X) substitution, that was found in compound heterozygous state in a fetus with short-rib thoracic dysplasia and polydactyly (SRTD15; <a href="/entry/617088">617088</a>) by <a href="#9" class="mim-tip-reference" title="Taylor, S. P., Dantas, T. J., Duran, I., Wu, S., Lachman, R. S., University of Washington Center for Mendelian Genomics Consortium, Nelson, S. F., Cohn, D. H., Vallee, R. B., Krakow, D. <strong>Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.</strong> Nature Commun. 6: 7092, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26077881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26077881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26077881[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/10.1038/ncomms8092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26077881">Taylor et al. (2015)</a>, see <a href="#0001">617083.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26077881" 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">rs879255655 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255655;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=rs879255655" 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=rs879255655" 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=RCV000239685 OR RCV000754098" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239685, RCV000754098" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239685...</a>
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<p>In a fetus with short-rib thoracic dysplasia and polydactyly (SRTD15; <a href="/entry/617088">617088</a>), <a href="#9" class="mim-tip-reference" title="Taylor, S. P., Dantas, T. J., Duran, I., Wu, S., Lachman, R. S., University of Washington Center for Mendelian Genomics Consortium, Nelson, S. F., Cohn, D. H., Vallee, R. B., Krakow, D. <strong>Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.</strong> Nature Commun. 6: 7092, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26077881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26077881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26077881[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/10.1038/ncomms8092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26077881">Taylor et al. (2015)</a> identified compound heterozygosity for a c.1000G-T transversion in exon 13 of the DYNC2LI1 gene, resulting in a glu334-to-ter (E334X) substitution, and a c.993+3A-G transition in intron 12 (<a href="#0005">617083.0005</a>). RT-PCR analysis of RNA derived from fetal fibroblasts demonstrated in-frame skipping of exon 12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26077881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY</strong>
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DYNC2LI1, IVS12DS, A-G, +3
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879255656 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255656;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=rs879255656" 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=rs879255656" 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=RCV000239617 OR RCV000754099" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239617, RCV000754099" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239617...</a>
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<p>For discussion of the c.993+3A-G transition in intron 12 of the DYNC2LI1 gene that was found in compound heterozygous state in a fetus with short-rib thoracic dysplasia and polydactyly (SRTD15; <a href="/entry/617088">617088</a>) by <a href="#9" class="mim-tip-reference" title="Taylor, S. P., Dantas, T. J., Duran, I., Wu, S., Lachman, R. S., University of Washington Center for Mendelian Genomics Consortium, Nelson, S. F., Cohn, D. H., Vallee, R. B., Krakow, D. <strong>Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.</strong> Nature Commun. 6: 7092, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26077881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26077881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26077881[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/10.1038/ncomms8092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26077881">Taylor et al. (2015)</a>, see <a href="#0004">617083.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26077881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 SHORT-RIB THORACIC DYSPLASIA 15 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> rs745930390 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs745930390;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/rs745930390?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=rs745930390" 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=rs745930390" 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=RCV000239659 OR RCV001857844" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239659, RCV001857844" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239659...</a>
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<p>In a female patient with short-rib thoracic dysplasia and polydactyly (SRTD15; <a href="/entry/617088">617088</a>), <a href="#5" class="mim-tip-reference" title="Kessler, K., Wunderlich, I., Uebe, S., Falk, N. S., Giessl, A., Brandstatter, J. H., Popp, B., Klinger, P., Ekici, A. B., Sticht, H., Door, H.-G., Reis, A., Roepman, R., Seemanova, E., Thiel, C. T. <strong>DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.</strong> Sci. Rep. 5: 11649, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26130459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26130459</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26130459[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/10.1038/srep11649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26130459">Kessler et al. (2015)</a> identified compound heterozygosity for a c.622C-T transition (c.622C-T, NM_001193464) in exon 8 of the DYNC2LI1 gene, resulting in an arg208-to-ter (R208X) substitution, and a c.662C-T transition in exon 9, resulting in a thr221-to-ile (T221I; <a href="#0007">617083.0007</a>) substitution. The missense mutation was present in heterozygosity in the unaffected mother, brother, and son of the patient; DNA from her healthy father and 2 other affected sibs was unavailable. Both mutations occurred at highly conserved residues, and neither was present in 858 control chromosomes or in the ExAC database. The female patient lived to adulthood and had an unaffected son, whereas her affected older sister died 2 days after birth; their mother also had 3 miscarriages and 1 affected pregnancy was terminated at 19 weeks. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26130459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 SHORT-RIB THORACIC DYSPLASIA 15 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> rs886037860 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886037860;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/rs886037860?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=rs886037860" 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=rs886037860" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the c.662C-T transition (c.662C-T, NM_001193464) in exon 9 of the DYNC2LI1 gene, resulting in a thr221-to-ile (T221I) substitution, that was found in compound heterozygous state in a patient with short-rib thoracic dysplasia and polydactyly (SRTD15; <a href="/entry/617088">617088</a>) by <a href="#5" class="mim-tip-reference" title="Kessler, K., Wunderlich, I., Uebe, S., Falk, N. S., Giessl, A., Brandstatter, J. H., Popp, B., Klinger, P., Ekici, A. B., Sticht, H., Door, H.-G., Reis, A., Roepman, R., Seemanova, E., Thiel, C. T. <strong>DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.</strong> Sci. Rep. 5: 11649, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26130459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26130459</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26130459[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/10.1038/srep11649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26130459">Kessler et al. (2015)</a>, see <a href="#0006">617083.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26130459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 affected individuals from 2 families with SRTD and polydactyly, <a href="#7" class="mim-tip-reference" title="Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A., Tartaglia, M. <strong>Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.</strong> Clin. Genet. 93: 632-639, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28857138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28857138</a>] [<a href="https://doi.org/10.1111/cge.13128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28857138">Niceta et al. (2018)</a> identified compound heterozygosity for the T221I mutation and another mutation in the DYNC2LI1 gene. In the 3 affected members of family 1, including the 2 Italian sisters (SC742D1 and SC741D1) originally reported by <a href="#2" class="mim-tip-reference" title="Digilio, M. C., Marino, B., Giannotti, A., Dallapiccola, B. <strong>Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes. (Letter)</strong> Pediat. Cardiol. 18: 74-75, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8960501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8960501</a>] [<a href="https://doi.org/10.1007/s002469900116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8960501">Digilio et al. (1997)</a>, now aged 42 years and 31 years, and a 4-year-old boy (BL1304-12) who was their second cousin once removed, the second mutation was a c.2T-C transition, resulting in a met1-to-? (M1?; <a href="#0008">617083.0008</a>) substitution. In the brother (MGM03-0553) and sister (MGM03-0552) of family 2, who were 23 and 16 years old, the second mutation was a 1-bp deletion (c.420delA; <a href="#0009">617083.0009</a>), causing a frameshift predicted to result in a val141-to-ter (V141X) substitution; their unaffected parents were each heterozygous for 1 of the mutations. The T221I variant was not found in the ExAC database, but the other variants were present at low frequencies, occurring as heterozygous changes in all instances. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8960501+28857138" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>For discussion of the c.2T-C transition (c.2T-C, NM_001193464.1) in the DYNC2LI1 gene, resulting in a met1-to-? (M1?) substitution, that was found in compound heterozygous state in 2 Italian sisters, who were originally reported by <a href="#2" class="mim-tip-reference" title="Digilio, M. C., Marino, B., Giannotti, A., Dallapiccola, B. <strong>Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes. (Letter)</strong> Pediat. Cardiol. 18: 74-75, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8960501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8960501</a>] [<a href="https://doi.org/10.1007/s002469900116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8960501">Digilio et al. (1997)</a>, and in their second cousin once removed with short-rib thoracic dysplasia with polydactyly (SRTD15; <a href="/entry/617088">617088</a>) by <a href="#7" class="mim-tip-reference" title="Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A., Tartaglia, M. <strong>Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.</strong> Clin. Genet. 93: 632-639, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28857138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28857138</a>] [<a href="https://doi.org/10.1111/cge.13128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28857138">Niceta et al. (2018)</a>, see <a href="#0007">617083.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8960501+28857138" 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> rs770155116 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs770155116;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/rs770155116?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=rs770155116" 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=rs770155116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 1-bp deletion (c.420delA, NM_001103464.1) in the DYNC2LI1 gene, resulting in a val141-to-ter (V141X) substitution, that was found in compound heterozygous state in 2 sibs with short-rib thoracic dysplasia with polydactyly (SRTD15; <a href="/entry/617088">617088</a>) by <a href="#7" class="mim-tip-reference" title="Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A., Tartaglia, M. <strong>Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.</strong> Clin. Genet. 93: 632-639, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28857138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28857138</a>] [<a href="https://doi.org/10.1111/cge.13128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28857138">Niceta et al. (2018)</a>, see <a href="#0007">617083.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28857138" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In an infant girl who had short-rib thoracic dysplasia with polydactyly (SRTD15; <a href="/entry/617088">617088</a>) and died within the first month of life, <a href="#7" class="mim-tip-reference" title="Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A., Tartaglia, M. <strong>Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.</strong> Clin. Genet. 93: 632-639, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28857138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28857138</a>] [<a href="https://doi.org/10.1111/cge.13128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28857138">Niceta et al. (2018)</a> identified compound heterozygosity for mutations in the DYNC2LI1 gene: a 1-bp insertion (c.123_124insA, NM_001193464.1), causing a frameshift predicted to result in a premature termination codon (Gly42ArgfsTer12), and a splice site mutation (c.658-11delT; <a href="#0011">617083.0011</a>) in intron 8. Her unaffected parents were each heterozygous for 1 of the mutations. Biologic material was not available from the proband, but analysis of maternal mRNA demonstrated loss of mRNA containing the splice site change. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28857138" 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> rs752971070 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs752971070;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/rs752971070?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=rs752971070" 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=rs752971070" 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=RCV000613971" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000613971" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000613971</a>
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<p>For discussion of the 1-bp deletion (c.658-11delT, NM_001193464.1) in intron 8 of the DYNC2LI1 gene, predicted to disrupt normal splicing, that was found in compound heterozygous state in an infant girl with short-rib thoracic dysplasia with polydactyly (SRTD15; <a href="/entry/617088">617088</a>) by <a href="#7" class="mim-tip-reference" title="Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A., Tartaglia, M. <strong>Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.</strong> Clin. Genet. 93: 632-639, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28857138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28857138</a>] [<a href="https://doi.org/10.1111/cge.13128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28857138">Niceta et al. (2018)</a>, see <a href="#0010">617083.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28857138" 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>.0012 SHORT-RIB THORACIC DYSPLASIA 15 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> rs1435689952 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1435689952;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/rs1435689952?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=rs1435689952" 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=rs1435689952" 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=RCV001431570" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001431570" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001431570</a>
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<p>For discussion of the 2-bp deletion (c.18_19del) in the DYNC2LI1 gene, causing a frameshift predicted to result in a premature termination codon (Trp7GlyfsTer6), that was found in compound heterozygous state in a 3-year-old girl with short-rib thoracic dysplasia with polydactyly and congenital short gut (SRTD15; <a href="/entry/617088">617088</a>) by <a href="#1" class="mim-tip-reference" title="Bryson, L. J., Flynn, D. M., Sabharwal, A., Ahmed, S. F., Kinning, E. <strong>A child with congenital short gut associated with DYNC2LI1 ciliopathy.</strong> Clin. Dysmorph. 30: 66-68, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32815859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32815859</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000341" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32815859">Bryson et al. (2021)</a>, see <a href="#0001">617083.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32815859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Bryson, L. J., Flynn, D. M., Sabharwal, A., Ahmed, S. F., Kinning, E.
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<strong>A child with congenital short gut associated with DYNC2LI1 ciliopathy.</strong>
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Clin. Dysmorph. 30: 66-68, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32815859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32815859</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32815859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/MCD.0000000000000341" target="_blank">Full Text</a>]
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<a id="Digilio1997" class="mim-anchor"></a>
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Digilio, M. C., Marino, B., Giannotti, A., Dallapiccola, B.
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<strong>Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes. (Letter)</strong>
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Pediat. Cardiol. 18: 74-75, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8960501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8960501</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8960501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s002469900116" target="_blank">Full Text</a>]
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Grissom, P. M., Vaisberg, E. A., McIntosh, J. R.
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<strong>Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2.</strong>
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Molec. Biol. Cell 13: 817-829, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11907264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11907264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11907264[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=11907264" 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/10.1091/mbc.01-08-0402" target="_blank">Full Text</a>]
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<a id="Gross2016" class="mim-anchor"></a>
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 8/18/2016.
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Kessler, K., Wunderlich, I., Uebe, S., Falk, N. S., Giessl, A., Brandstatter, J. H., Popp, B., Klinger, P., Ekici, A. B., Sticht, H., Door, H.-G., Reis, A., Roepman, R., Seemanova, E., Thiel, C. T.
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<strong>DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.</strong>
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Sci. Rep. 5: 11649, 2015. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26130459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26130459</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26130459[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=26130459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/srep11649" target="_blank">Full Text</a>]
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Mikami, A., Tynan, S. H., Hama, T., Luby-Phelps, K., Saito, T., Crandall, J. E., Besharse, J. C., Vallee, R. B.
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<strong>Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells.</strong>
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J. Cell Sci. 115: 4801-4808, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12432068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12432068</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12432068" 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/10.1242/jcs.00168" target="_blank">Full Text</a>]
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Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A., Tartaglia, M.
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<strong>Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.</strong>
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Clin. Genet. 93: 632-639, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28857138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28857138</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28857138" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.13128" target="_blank">Full Text</a>]
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Perrone, C. A., Tritschler, D., Taulman, P., Bower, R., Yoder, B. K., Porter, M. E.
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<strong>A novel dynein light intermediate chain colocalizes with the retrograde motor for intraflagellar transport at sites of axoneme assembly in Chlamydomonas and mammalian cells.</strong>
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Molec. Biol. Cell 14: 2041-2056, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12802074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12802074</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12802074[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=12802074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Taylor, S. P., Dantas, T. J., Duran, I., Wu, S., Lachman, R. S., University of Washington Center for Mendelian Genomics Consortium, Nelson, S. F., Cohn, D. H., Vallee, R. B., Krakow, D.
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<strong>Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.</strong>
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Nature Commun. 6: 7092, 2015. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26077881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26077881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26077881[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=26077881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ncomms8092" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 05/20/2021
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Marla J. F. O'Neill - updated : 04/06/2018<br>Marla J. F. O'Neill - updated : 08/24/2016<br>Matthew B. Gross - updated : 08/18/2016
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Creation Date:
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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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Paul J. Converse : 08/18/2016
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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alopez : 09/13/2023
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<span class="mim-text-font">
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carol : 04/17/2023<br>alopez : 03/15/2022<br>alopez : 05/20/2021<br>carol : 04/07/2018<br>carol : 04/06/2018<br>carol : 08/25/2016<br>carol : 08/24/2016<br>carol : 08/24/2016<br>mgross : 08/18/2016
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<span class="mim-font">
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<strong>*</strong> 617083
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DYNEIN, CYTOPLASMIC 2, LIGHT INTERMEDIATE CHAIN 1; DYNC2LI1
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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DYNEIN 2, LIGHT INTERMEDIATE CHAIN; D2LIC<br />
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LIGHT INTERMEDIATE CHAIN 3; LIC3
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DYNC2LI1</em></strong>
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<strong>
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Cytogenetic location: 2p21
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:43,774,039-43,828,347 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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2p21
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<span class="mim-font">
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Short-rib thoracic dysplasia 15 with polydactyly
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<span class="mim-font">
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617088
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>Dyneins are large, multisubunit motor proteins that are involved in a wide variety of cellular processes. Cytoplasmic dyneins are involved in vesicle transport, formation and localization of the Golgi complex, mitotic spindle assembly and positioning, nuclear migration, and chromosome movement. DYNC2LI1 is a light intermediate chain of the cytoplasmic dynein-2 complex and interacts directly with the heavy chain, DHC2 (DYNC2H1; 603297) (Grissom et al., 2002). </p>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>By microsequencing a 33-kD protein that coimmunoprecipitated with Dhc2 from COS-7 cells, followed by database analysis, Grissom et al. (2002) identified human DYNC2LI1, which they called D2LIC. The predicted 351-amino acid human protein contains an N-terminal P-loop and a C-terminal coiled-coil region. The human protein shares homology with dynein-1 light intermediate chains from other species, particularly in the N terminus. D2LIC orthologs are present in mouse, worm, fly, and algae. Northern blot analysis detected a 1.6-kb D2LIC transcript in HeLa cells and COS-7 cells. Western blot analysis showed expression of a 39-kD protein in COS-7 cells. Western blot analysis of mouse tissues revealed highest expression of D2lic in testis, with lower levels in kidney, brain, lung, and liver, and no expression heart. Immunocytochemical analysis of COS-7 cells demonstrated expression of D2lic in Golgi apparatus and colocalization with Dhc2. </p><p>By database analysis, Mikami et al. (2002) identified rat Dync2li1, which they termed Lic3. Immunohistochemical analysis demonstrated expression of Dhc2 and Lic3 in neonatal and adult mouse brain, particularly in the ependymal layer lining the lateral ventricles. Dhc2 and Lic3 were also expressed in a punctate manner in connecting cilia of bovine retina and in primary cilia of rat kidney epithelial cells. </p><p>Using quantitative RT-PCR for transcriptional analysis in a series of 16-week fetal tissues, Taylor et al. (2015) observed that DYNC2LI1 was more highly expressed in bone than in other embryonic tissues such as brain, cartilage, heart, liver, lung, placenta, and thymus. Immunohistochemistry of human cartilage growth plate revealed DYNC2LI1 expression in the perichondrium, periosteum, and primary spongiosa of bone. In addition, immunohistochemistry of DYNC2H1 (603297) and WDR34 (613363) showed an overlapping expression pattern. Taylor et al. (2015) concluded that their findings supported a role for DYNC2LI1 and the dynein-2 complex in human skeletal development. </p><p>Kessler et al. (2015) analyzed expression levels of DYNC2LI1 in adult and fetal tissues and found the highest expression levels in chondrocytes, brain, and kidney. No differences between fetal and adult tissues were observed except for higher fetal expression in brain, kidney, and lungs. The authors noted that all 3 isoforms were expressed in the examined tissues, with highest contribution from the 2 longest isoforms. By immunofluorescence in ciliated fibroblasts, Kessler et al. (2015) confirmed localization of the DYNC2LI1 protein to the cytoplasm and centrosomes, as well as around the basal body and transition zone of the primary cilium. </p>
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</span>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Grissom et al. (2002) stated that the DYNC2LI1 gene maps to chromosome 2. </p><p>Gross (2016) mapped the DYNC2LI1 gene to chromosome 2p21 based on an alignment of the DYNC2LI1 sequence (GenBank AF151818) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By immunoprecipitation analysis of COS-7 cells, Grissom et al. (2002) confirmed the association of D2lic with Dhc2. Based on its localization in Golgi, Grissom et al. (2002) proposed that D2LIC may play a role in maintaining Golgi organization by binding cytoplasmic dynein-2 to its Golgi-associated cargo. </p><p>Using immunologic and biochemical analyses, Mikami et al. (2002) showed that rat Lic3 associated with Dhc2. They presented evidence suggesting that dynein-2 is involved in generation and maintenance of cilia. </p><p>Perrone et al. (2003) confirmed association of the DHC2 and D2LIC orthologs in algae and found that the complex was involved with other intraflagellar transport (IFT) components in both algae and mammalian cells. Their studies suggested that the DHC2/D2LIC complex is the retrograde IFT motor and is conserved throughout ciliated organisms. </p><p>Taylor et al. (2015) performed RNAi against DYNC2LI1 in retinal epithelial (hTERT-RPE1) cells and observed significantly increased variation in cilia length, reproducing the phenotype observed in mutated fibroblasts (see 617083.0001). In addition, RNAi knockdown of DYNC2LI1 in RPE1 cells resulted in a 3-fold increase in the ratio of IFT88 (600595) retained in the primary cilium body relative to the proximal end. Taylor et al. (2015) concluded that DYNC2LI1 and the dynein-2 complex play an important role in regulation of primary cilia length, and that loss of DYNC2LI1 markedly impairs retrograde intraflagellar transport. </p><p>Kessler et al. (2015) analyzed fibroblasts after siRNA knockdown of DYNC2LI1 and observed no significant difference in percentage of ciliated cells compared to control fibroblasts. However, the mutant fibroblasts had significantly shorter cilia than controls, and significantly more cilia exhibited altered morphology, with broadened ciliary tips. In addition, the DYNC2LI1-depleted cells showed accumulation of the IFT components IFT57 (606621) and IFT88 in the bulbous ciliary tip, confirming a retrograde IFT defect in those cells. </p>
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</span>
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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>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 3 fetuses from 3 unrelated families with short-rib thoracic dysplasia and polydactyly (SRTD15; 617088), Taylor et al. (2015) identified compound heterozygosity for missense, nonsense, and splice site mutations in the DYNC2LI1 gene (617083.0001-617083.0005) that segregated with disease. Fetal fibroblasts exhibited loss of cilia length regulation, ciliary accumulation of IFT components, and aberrant Hedgehog (see SHH, 600725) pathway activity, and the ciliary phenotype was rescued by wildtype DYNC2LI1. </p><p>In 1 of 3 sibs with SRTD and polydactyly, Kessler et al. (2015) identified compound heterozygosity for a nonsense (617083.0006) and a missense (617083.0007) mutation in the DYNC2LI1 gene; DNA was unavailable from the 2 other affected sibs. </p><p>In 6 patients from 3 families with SRTD, Niceta et al. (2018) identified compound heterozygosity for mutations in the DYNC2LI1 gene (617083.0007-617083.0011). Noting the wide clinical spectrum exhibited by the patients, including 1 who died shortly after birth and 1 who was in the fifth decade of life, the authors suggested that the severity of the phenotype might depend on the extent of defective DYNC2LI1 function. </p><p>In a 3-year-old girl with SRTD and congenital short gut, Bryson et al. (2021) identified compound heterozygosity for a previously reported missense mutation in the DYNC1LI1 gene (L117V; 617083.0001) and a frameshift mutation (617083.0012). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>12 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 SHORT-RIB THORACIC DYSPLASIA 15 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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DYNC2LI1, LEU117VAL ({dbSNP rs201948500})
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<br />
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SNP: rs201948500,
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gnomAD: rs201948500,
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ClinVar: RCV000239697, RCV000754096, RCV002517158
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<div>
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<span class="mim-text-font">
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<p>In 2 fetuses from unrelated families with short-rib thoracic dysplasia and polydactyly (SRTD15; 617088), Taylor et al. (2015) identified compound heterozygosity for mutations in the DYNC2LI1 gene. The first mutation was a c.349C-G transversion (rs201948500) in exon 6, resulting in a leu117-to-val (L117V) substitution at a conserved residue within an NTPase-related domain. In 1 fetus, the second mutation was a G-A transition in intron 12 (c.993+1G-A; 617083.0002), whereas in the other fetus, the second mutation was a c.372G-A transition in exon 6, resulting in a trp124-to-ter (W124X; 617083.0003) substitution. The unaffected parents in both families were each heterozygous for 1 of the mutations. Western blot analyses of fibroblast-derived lysates from both fetuses showed that DYNC2LI1 was markedly reduced, indicating that the mutations likely lead to loss of DYNC2LI1 stability. In addition, RT-PCR analysis of RNA derived from fibroblasts of the fetus with the splice site mutation demonstrated in-frame skipping of exon 12. Although the percentage of ciliated cells was only slightly reduced between fetal and control cells, Taylor et al. (2015) found that primary cilia length was highly variable in mutant fibroblasts compared to controls, with a substantial increase in the number of hyperelongated cilia up to 20 micrometers in length. Intraflagellar transport components IFT88 (600595), TRAF3IP1 (607380), and KIF3A (604683) all accumulated near the cilia tip in fetal fibroblasts, with 3- to 4-fold more IFT88 retained in the axonemes of mutant cilia compared to controls; this ratio, indicative of defective retrograde transport, was reduced by the expression of wildtype DYNC2LI1 in fetal fibroblasts. In addition, abnormal distribution of SMO (SMOH; 601500) into cilia of unstimulated mutant fibroblasts, as well as altered ratios of full-length to repressor GLI3 (165240), indicated impaired regulation of Hedgehog (see SHH, 600725) signaling in the fetuses. </p><p>In a 3-year-old girl who had SRTD with 4-limb postaxial polydactyly and congenital short gut, Bryson et al. (2021) identified compound heterozygosity for the L117V mutation in the DYNC1LI1 gene and a 2-bp deletion (c.18_19del; 617083.0012), causing a frameshift predicted to result in a premature termination codon (Trp7GlyfsTer6). Familial segregation was not reported. </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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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SHORT-RIB THORACIC DYSPLASIA 15 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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DYNC2LI1, IVS12DS, G-A, +1
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<br />
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SNP: rs374356079,
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gnomAD: rs374356079,
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ClinVar: RCV000239722, RCV000754095, RCV001853127
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the c.993+1G-A transition in intron 12 of the DYNC2LI1 gene that was found in compound heterozygous state in a fetus with short-rib thoracic dysplasia and polydactyly (SRTD15; 617088) by Taylor et al. (2015), see 617083.0001. </p>
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</span>
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</div>
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<div>
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<br />
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 SHORT-RIB THORACIC DYSPLASIA 15 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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DYNC2LI1, TRP124TER
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<br />
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SNP: rs769975073,
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gnomAD: rs769975073,
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ClinVar: RCV000239657, RCV000754097, RCV001853128
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the c.372G-A transition in exon 6 of the DYNC2LI1 gene, resulting in a trp124-to-ter (W124X) substitution, that was found in compound heterozygous state in a fetus with short-rib thoracic dysplasia and polydactyly (SRTD15; 617088) by Taylor et al. (2015), see 617083.0001. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0004 SHORT-RIB THORACIC DYSPLASIA 15 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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DYNC2LI1, GLU334TER
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<br />
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SNP: rs879255655,
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ClinVar: RCV000239685, RCV000754098
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a fetus with short-rib thoracic dysplasia and polydactyly (SRTD15; 617088), Taylor et al. (2015) identified compound heterozygosity for a c.1000G-T transversion in exon 13 of the DYNC2LI1 gene, resulting in a glu334-to-ter (E334X) substitution, and a c.993+3A-G transition in intron 12 (617083.0005). RT-PCR analysis of RNA derived from fetal fibroblasts demonstrated in-frame skipping of exon 12. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 SHORT-RIB THORACIC DYSPLASIA 15 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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DYNC2LI1, IVS12DS, A-G, +3
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<br />
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SNP: rs879255656,
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ClinVar: RCV000239617, RCV000754099
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the c.993+3A-G transition in intron 12 of the DYNC2LI1 gene that was found in compound heterozygous state in a fetus with short-rib thoracic dysplasia and polydactyly (SRTD15; 617088) by Taylor et al. (2015), see 617083.0004. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0006 SHORT-RIB THORACIC DYSPLASIA 15 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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DYNC2LI1, ARG208TER
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<br />
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SNP: rs745930390,
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gnomAD: rs745930390,
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ClinVar: RCV000239659, RCV001857844
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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 patient with short-rib thoracic dysplasia and polydactyly (SRTD15; 617088), Kessler et al. (2015) identified compound heterozygosity for a c.622C-T transition (c.622C-T, NM_001193464) in exon 8 of the DYNC2LI1 gene, resulting in an arg208-to-ter (R208X) substitution, and a c.662C-T transition in exon 9, resulting in a thr221-to-ile (T221I; 617083.0007) substitution. The missense mutation was present in heterozygosity in the unaffected mother, brother, and son of the patient; DNA from her healthy father and 2 other affected sibs was unavailable. Both mutations occurred at highly conserved residues, and neither was present in 858 control chromosomes or in the ExAC database. The female patient lived to adulthood and had an unaffected son, whereas her affected older sister died 2 days after birth; their mother also had 3 miscarriages and 1 affected pregnancy was terminated at 19 weeks. </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>.0007 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DYNC2LI1, THR221ILE
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<br />
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SNP: rs886037860,
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gnomAD: rs886037860,
|
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|
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ClinVar: RCV000239689, RCV002519870
|
|
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.662C-T transition (c.662C-T, NM_001193464) in exon 9 of the DYNC2LI1 gene, resulting in a thr221-to-ile (T221I) substitution, that was found in compound heterozygous state in a patient with short-rib thoracic dysplasia and polydactyly (SRTD15; 617088) by Kessler et al. (2015), see 617083.0006. </p><p>In 5 affected individuals from 2 families with SRTD and polydactyly, Niceta et al. (2018) identified compound heterozygosity for the T221I mutation and another mutation in the DYNC2LI1 gene. In the 3 affected members of family 1, including the 2 Italian sisters (SC742D1 and SC741D1) originally reported by Digilio et al. (1997), now aged 42 years and 31 years, and a 4-year-old boy (BL1304-12) who was their second cousin once removed, the second mutation was a c.2T-C transition, resulting in a met1-to-? (M1?; 617083.0008) substitution. In the brother (MGM03-0553) and sister (MGM03-0552) of family 2, who were 23 and 16 years old, the second mutation was a 1-bp deletion (c.420delA; 617083.0009), causing a frameshift predicted to result in a val141-to-ter (V141X) substitution; their unaffected parents were each heterozygous for 1 of the mutations. The T221I variant was not found in the ExAC database, but the other variants were present at low frequencies, occurring as heterozygous changes in all instances. </p>
|
|
</span>
|
|
</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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
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DYNC2LI1, MET1? ({dbSNP rs200859699})
|
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|
|
<br />
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|
|
SNP: rs200859699,
|
|
|
|
|
|
gnomAD: rs200859699,
|
|
|
|
|
|
ClinVar: RCV000611382, RCV002528809
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.2T-C transition (c.2T-C, NM_001193464.1) in the DYNC2LI1 gene, resulting in a met1-to-? (M1?) substitution, that was found in compound heterozygous state in 2 Italian sisters, who were originally reported by Digilio et al. (1997), and in their second cousin once removed with short-rib thoracic dysplasia with polydactyly (SRTD15; 617088) by Niceta et al. (2018), see 617083.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DYNC2LI1, 1-BP DEL, 420A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs770155116,
|
|
|
|
|
|
gnomAD: rs770155116,
|
|
|
|
|
|
ClinVar: RCV000600015, RCV005091753
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion (c.420delA, NM_001103464.1) in the DYNC2LI1 gene, resulting in a val141-to-ter (V141X) substitution, that was found in compound heterozygous state in 2 sibs with short-rib thoracic dysplasia with polydactyly (SRTD15; 617088) by Niceta et al. (2018), see 617083.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DYNC2LI1, 1-BP INS, 123A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1553359373,
|
|
|
|
|
|
|
|
ClinVar: RCV000608198
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an infant girl who had short-rib thoracic dysplasia with polydactyly (SRTD15; 617088) and died within the first month of life, Niceta et al. (2018) identified compound heterozygosity for mutations in the DYNC2LI1 gene: a 1-bp insertion (c.123_124insA, NM_001193464.1), causing a frameshift predicted to result in a premature termination codon (Gly42ArgfsTer12), and a splice site mutation (c.658-11delT; 617083.0011) in intron 8. Her unaffected parents were each heterozygous for 1 of the mutations. Biologic material was not available from the proband, but analysis of maternal mRNA demonstrated loss of mRNA containing the splice site change. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DYNC2LI1, IVS8AS, 1-BP DEL, -11T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs752971070,
|
|
|
|
|
|
gnomAD: rs752971070,
|
|
|
|
|
|
ClinVar: RCV000613971
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion (c.658-11delT, NM_001193464.1) in intron 8 of the DYNC2LI1 gene, predicted to disrupt normal splicing, that was found in compound heterozygous state in an infant girl with short-rib thoracic dysplasia with polydactyly (SRTD15; 617088) by Niceta et al. (2018), see 617083.0010. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DYNC2LI1, 2-BP DEL, NT18
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1435689952,
|
|
|
|
|
|
gnomAD: rs1435689952,
|
|
|
|
|
|
ClinVar: RCV001431570
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 2-bp deletion (c.18_19del) in the DYNC2LI1 gene, causing a frameshift predicted to result in a premature termination codon (Trp7GlyfsTer6), that was found in compound heterozygous state in a 3-year-old girl with short-rib thoracic dysplasia with polydactyly and congenital short gut (SRTD15; 617088) by Bryson et al. (2021), see 617083.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bryson, L. J., Flynn, D. M., Sabharwal, A., Ahmed, S. F., Kinning, E.
|
|
<strong>A child with congenital short gut associated with DYNC2LI1 ciliopathy.</strong>
|
|
Clin. Dysmorph. 30: 66-68, 2021.
|
|
|
|
|
|
[PubMed: 32815859]
|
|
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|
|
[Full Text: https://doi.org/10.1097/MCD.0000000000000341]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Digilio, M. C., Marino, B., Giannotti, A., Dallapiccola, B.
|
|
<strong>Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes. (Letter)</strong>
|
|
Pediat. Cardiol. 18: 74-75, 1997.
|
|
|
|
|
|
[PubMed: 8960501]
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|
|
|
|
|
[Full Text: https://doi.org/10.1007/s002469900116]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Grissom, P. M., Vaisberg, E. A., McIntosh, J. R.
|
|
<strong>Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2.</strong>
|
|
Molec. Biol. Cell 13: 817-829, 2002.
|
|
|
|
|
|
[PubMed: 11907264]
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|
|
[Full Text: https://doi.org/10.1091/mbc.01-08-0402]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 8/18/2016.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kessler, K., Wunderlich, I., Uebe, S., Falk, N. S., Giessl, A., Brandstatter, J. H., Popp, B., Klinger, P., Ekici, A. B., Sticht, H., Door, H.-G., Reis, A., Roepman, R., Seemanova, E., Thiel, C. T.
|
|
<strong>DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.</strong>
|
|
Sci. Rep. 5: 11649, 2015. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 26130459]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/srep11649]
|
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|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Mikami, A., Tynan, S. H., Hama, T., Luby-Phelps, K., Saito, T., Crandall, J. E., Besharse, J. C., Vallee, R. B.
|
|
<strong>Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells.</strong>
|
|
J. Cell Sci. 115: 4801-4808, 2002.
|
|
|
|
|
|
[PubMed: 12432068]
|
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|
|
|
[Full Text: https://doi.org/10.1242/jcs.00168]
|
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|
|
</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A., Tartaglia, M.
|
|
<strong>Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.</strong>
|
|
Clin. Genet. 93: 632-639, 2018.
|
|
|
|
|
|
[PubMed: 28857138]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/cge.13128]
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</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Perrone, C. A., Tritschler, D., Taulman, P., Bower, R., Yoder, B. K., Porter, M. E.
|
|
<strong>A novel dynein light intermediate chain colocalizes with the retrograde motor for intraflagellar transport at sites of axoneme assembly in Chlamydomonas and mammalian cells.</strong>
|
|
Molec. Biol. Cell 14: 2041-2056, 2003.
|
|
|
|
|
|
[PubMed: 12802074]
|
|
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[Full Text: https://doi.org/10.1091/mbc.e02-10-0682]
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Taylor, S. P., Dantas, T. J., Duran, I., Wu, S., Lachman, R. S., University of Washington Center for Mendelian Genomics Consortium, Nelson, S. F., Cohn, D. H., Vallee, R. B., Krakow, D.
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<strong>Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.</strong>
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Nature Commun. 6: 7092, 2015. Note: Electronic Article.
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[PubMed: 26077881]
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[Full Text: https://doi.org/10.1038/ncomms8092]
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Marla J. F. O'Neill - updated : 05/20/2021<br>Marla J. F. O'Neill - updated : 04/06/2018<br>Marla J. F. O'Neill - updated : 08/24/2016<br>Matthew B. Gross - updated : 08/18/2016
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