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Entry
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- *603297 - DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1; DYNC2H1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603297</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#geneFamily">Gene Family</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603297">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000187240;t=ENST00000375735" 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=79659" 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=603297" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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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=ENSG00000187240;t=ENST00000375735" 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_001080463,NM_001377,XM_006718903,XM_017018291,XM_017018292,XM_017018293" 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_001377" 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=603297" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=10344&isoform_id=10344_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/DYNC2H1" 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/687714,1314645,2154759,10433084,21754864,29421212,31874233,34531650,47077421,71297424,72069066,77999865,122937398,166788546,283806679,311033479,578822370,1034575399,1034575401,1034575403,2462527580,2462527582,2462527584,2462527586" 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/Q8NCM8" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=79659" 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=ENSG00000187240;t=ENST00000375735" 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=DYNC2H1" 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=DYNC2H1" 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+79659" 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/DYNC2H1" 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:79659" 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/79659" 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=chr11&hgg_gene=ENST00000650373.2&hgg_start=103109426&hgg_end=103479863&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2962" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2962" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/dync2h1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603297[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=603297[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/DYNC2H1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000187240" 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=DYNC2H1" 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=DYNC2H1" 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=DYNC2H1" 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=DYNC2H1&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/PA27433" 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:2962" 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/FBgn0023096.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:107736" 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/DYNC2H1#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:107736" 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/79659/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=79659" 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=WBGene00000485;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-100217-1" 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:79659" 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=DYNC2H1&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 726032008<br />
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">ICD+</a>
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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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603297
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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, HEAVY CHAIN 1; DYNC2H1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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DNCH2; DHC2<br />
|
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DYNEIN HEAVY CHAIN, ISOTYPE 1B; DHC1B
|
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</span>
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=DYNC2H1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DYNC2H1</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/11/876?start=-3&limit=10&highlight=876">11q22.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:103109426-103479863&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'})">11:103,109,426-103,479,863</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>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
|
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<th>
|
|
Location
|
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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>
|
|
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">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/876?start=-3&limit=10&highlight=876">
|
|
11q22.3
|
|
</a>
|
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</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Short-rib thoracic dysplasia 3 with or without polydactyly
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/613091"> 613091 </a>
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic recessive">DR</abbr>
|
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|
|
</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
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<p>The DYNC2H1 gene encodes a protein involved in ciliary intraflagellar transport (IFT), an evolutionarily conserved process that is essential for ciliogenesis and plays a role in cell signaling events. DYNC2H1 is the central ATPase subunit of the IFT dynein-2 complex, the principal minus-end directed microtubule motor that drives retrograde transport of the IFT-A protein complex that regulates tip-to-base transport in cilia. DYNC2H1 has a typical dynein heavy chain organization (summary by <a href="#13" class="mim-tip-reference" title="Schmidts, M., Arts, H. H., Bongers, E. M. H. F., Yap, Z., Oud, M. M., Antony, D., Duijkers, L., Emes, R. D., Stalker, J., Yntema, J.-B. L., Plagnol, V., Hoischen, A., and 23 others. <strong>Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.</strong> J. Med. Genet. 50: 309-323, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23456818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23456818</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23456818[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/10.1136/jmedgenet-2012-101284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23456818">Schmidts et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23456818" 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>Dyneins are a family of high molecular mass motor proteins that produce directed movement along microtubules. The dynein family is divided into 2 functional classes. The axonemal dyneins constitute the outer and inner arms on the doublet microtubules of ciliary and flagellar axonemes, where they generate the localized sliding motion between doublets that underlies the oscillatory beating of these organelles. Cytoplasmic dynein participates in numerous cellular activities. Both axonemal and cytoplasmic dyneins are multisubunit proteins containing 2 or 3 heavy chain polypeptide subunits of molecular mass greater than 500 kD, as well as 5 to 8 subunits of smaller size (summary by <a href="#6" class="mim-tip-reference" title="Gibbons, B. H., Asai, D. J., Tang, W.-J. Y., Hays, T. S., Gibbons, I. R. <strong>Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins.</strong> Molec. Biol. Cell 5: 57-70, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8186465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8186465</a>] [<a href="https://doi.org/10.1091/mbc.5.1.57" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8186465">Gibbons et al., 1994</a>). Within the dynein complex, the dynein heavy chain is the actual motor. The intermediate chains of both cytoplasmic and axonemal dynein appear to play a role in directing the dynein molecule to its appropriate subcellular target site. The light intermediate chains, with molecular masses of 55 to 59 kD, are unique to cytoplasmic dynein and contain consensus ATPase elements. Both axonemal and cytoplasmic dyneins also contain light chains of 8 to 25 kD (summary by <a href="#16" class="mim-tip-reference" title="Vaughan, K. T., Mikami, A., Paschal, B. M., Holzbaur, E. L. F., Hughes, S. M., Echeverri, C. J., Moore, K. J., Gilbert, D. J., Copeland, N. G., Jenkins, N. A., Vallee, R. B. <strong>Multiple mouse chromosomal loci for dynein-based motility.</strong> Genomics 36: 29-38, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8812413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8812413</a>] [<a href="https://doi.org/10.1006/geno.1996.0422" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8812413">Vaughan et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8812413+8186465" 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="#6" class="mim-tip-reference" title="Gibbons, B. H., Asai, D. J., Tang, W.-J. Y., Hays, T. S., Gibbons, I. R. <strong>Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins.</strong> Molec. Biol. Cell 5: 57-70, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8186465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8186465</a>] [<a href="https://doi.org/10.1091/mbc.5.1.57" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8186465">Gibbons et al. (1994)</a> identified DYH1b, a sea urchin dynein heavy chain related to the principal cytoplasmic dynein heavy chain, DYH1a (see DNCL, <a href="/entry/600112">600112</a>). <a href="#3" class="mim-tip-reference" title="Criswell, P. S., Ostrowski, L. E., Asai, D. J. <strong>A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells.</strong> J. Cell Sci. 109: 1891-1898, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8832411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8832411</a>] [<a href="https://doi.org/10.1242/jcs.109.7.1891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8832411">Criswell et al. (1996)</a> cloned cDNAs encoding DHC1b, the rat DYH1b homolog. Quantitative RT-PCR revealed that DHC1b is expressed in ciliated and nonciliated tissues. By immunofluorescence, the authors found that DHC1b is present in the cytoplasm of ciliated rat tracheal epithelial (RTE) cells, often accumulating at the apical ends of cells. However, the protein did not appear to be a component of RTE cilia. <a href="#3" class="mim-tip-reference" title="Criswell, P. S., Ostrowski, L. E., Asai, D. J. <strong>A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells.</strong> J. Cell Sci. 109: 1891-1898, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8832411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8832411</a>] [<a href="https://doi.org/10.1242/jcs.109.7.1891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8832411">Criswell et al. (1996)</a> suggested that DHC1b is a cytoplasmic dynein that may participate in intracellular trafficking in polarized cells. <a href="#2" class="mim-tip-reference" title="Criswell, P. S., Asai, D. J. <strong>Evidence for four cytoplasmic dynein heavy chain isoforms in rat testis.</strong> Molec. Biol. Cell 9: 237-247, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9450951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9450951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9450951[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.9.2.237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9450951">Criswell and Asai (1998)</a> found that rat testis contains 3 DHC1b-like dynein heavy chains, one of which is the product of the DHC1b gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8832411+8186465+9450951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By RT-PCR with degenerate primers based on a conserved region of dynein heavy chains, <a href="#15" class="mim-tip-reference" title="Vaisberg, E. A., Grissom, P. M., McIntosh, J. R. <strong>Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles.</strong> J. Cell Biol. 133: 831-842, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8666668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8666668</a>] [<a href="https://doi.org/10.1083/jcb.133.4.831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8666668">Vaisberg et al. (1996)</a> isolated cDNAs encoding DHC2. They considered DHC2 to be the human DYH1b homolog because the predicted partial protein sequences are 92% identical. DHC2 is a highly diverged member of the cytoplasmic dynein heavy chain family; it shares only 34% identity with DNCL. Using immunofluorescence, <a href="#15" class="mim-tip-reference" title="Vaisberg, E. A., Grissom, P. M., McIntosh, J. R. <strong>Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles.</strong> J. Cell Biol. 133: 831-842, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8666668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8666668</a>] [<a href="https://doi.org/10.1083/jcb.133.4.831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8666668">Vaisberg et al. (1996)</a> localized DHC2 predominantly to the Golgi apparatus. The Golgi dispersed upon microinjection of antibodies against DHC2, suggesting that this motor is involved in establishing proper Golgi organization. Northern blot analysis demonstrated that DHC2 is expressed as an approximately 15-kb mRNA in various mammalian cell lines and human tissues, including those that make neither cilia nor flagella. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8666668" 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="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.</strong> Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19442771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19442771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19442771">Dagoneau et al. (2009)</a> stated that the human DYNC2H1 gene encodes a 4,314-amino acid protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19442771" 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="#9" class="mim-tip-reference" title="Merrill, A. E., Merriman, B., Farrington-Rock, C., Camacho, N., Sebald, E. T., Funari, V. A., Schibler, M. J., Firestein, M. H., Cohn, Z. A., Priore, M. A., Thompson, A. K., Rimoin, D. L., Nelson, S. F., Cohn, D. H., Krakow, D. <strong>Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short rib-polydactyly syndrome.</strong> Am. J. Hum. Genet. 84: 542-549, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361615[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361615">Merrill et al. (2009)</a> stated that the human DYNC2H1 gene contains 90 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#12" class="mim-tip-reference" title="Schmidt, H., Zalyte, R., Urnavicius, L., Carter, A. P. <strong>Structure of human cytoplasmic dynein-2 primed for its power stroke.</strong> Nature 518: 435-438, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470043</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470043[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/nature14023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470043">Schmidt et al. (2015)</a> presented the crystal structure of the human cytoplasmic dynein-2 motor bound to the ATP-hydrolysis transition state analog ADP-vanadate. The structure revealed a closure of the motor's ring of 6 AAA+ domains (ATPases associated with various cellular activities: AAA1-AAA6). This induces a steric clash with the linker, the key element for the generation of movement, driving it into a conformation that is primed to produce force. Ring closure also changes the interface between the stalk and buttress coiled-coil extensions of the motor domain. This drives helix sliding in the stalk, which causes the microtubule binding domain at its tip to release from the microtubule. <a href="#12" class="mim-tip-reference" title="Schmidt, H., Zalyte, R., Urnavicius, L., Carter, A. P. <strong>Structure of human cytoplasmic dynein-2 primed for its power stroke.</strong> Nature 518: 435-438, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470043</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470043[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/nature14023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470043">Schmidt et al. (2015)</a> concluded that their structure elucidates how ATP hydrolysis leads to linker remodeling and microtubule affinity regulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25470043" 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 analysis of somatic cell and radiation hybrid panels, <a href="#8" class="mim-tip-reference" title="Kastury, K., Taylor, W. E., Gutierrez, M., Ramirez, L., Coucke, P. J., Van Hauwe, P., Van Camp, G., Bhasin, S. <strong>Chromosomal mapping of two members of the human dynein gene family to chromosomal regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11.</strong> Genomics 44: 362-364, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9325061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9325061</a>] [<a href="https://doi.org/10.1006/geno.1997.4903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9325061">Kastury et al. (1997)</a> mapped the DNCH2 gene to chromosome 11q13.5. By genomic sequence analysis, <a href="#11" class="mim-tip-reference" title="Pazour, G. J., Agrin, N., Walker, B. L., Witman, G. B. <strong>Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes. (Letter)</strong> J. Med. Genet. 43: 62-73, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937072</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15937072[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/10.1136/jmg.2005.033001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15937072">Pazour et al. (2006)</a> mapped the DNCH2 gene to chromosome 11q21-q22.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9325061+15937072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 5/24/2013."None>Gross (2013)</a> mapped the DYNC2H1 gene to chromosome 11q22.3 based on an alignment of the DYNC2H1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AB290167" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AB290167</a>) with the genomic sequence (GRCh37).</p>
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<p>Homozygous and compound heterozygous mutations in the DYNC2H1 gene have been identified in patients with short-rib thoracic dysplasia-3 with or without polydactyly (SRTD3; <a href="/entry/613091">613091</a>). This disorder has been referred to as asphyxiating thoracic dysplasia-3 (ATD3), Jeune syndrome, and short-rib polydactyly types I (SRPS1), IIB (SRPS2B), and III (SRPS3).</p><p><a href="#4" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.</strong> Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19442771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19442771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19442771">Dagoneau et al. (2009)</a> identified biallelic mutations in the DYNC2H1 gene (see, e.g., <a href="#0001">603297.0001</a>-<a href="#0006">603297.0006</a>) in patients diagnosed <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19442771" 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>with asphyxiating thoracic dystrophy and in patients diagnosed with short rib-polydactyly type III. Their findings demonstrated that ATD and SRPS III belong to the same heterogeneous spectrum of conditions and are allelic disorders.</p><p>Using a combination of SNP mapping, exome sequencing, and Sanger sequencing, <a href="#13" class="mim-tip-reference" title="Schmidts, M., Arts, H. H., Bongers, E. M. H. F., Yap, Z., Oud, M. M., Antony, D., Duijkers, L., Emes, R. D., Stalker, J., Yntema, J.-B. L., Plagnol, V., Hoischen, A., and 23 others. <strong>Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.</strong> J. Med. Genet. 50: 309-323, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23456818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23456818</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23456818[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/10.1136/jmedgenet-2012-101284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23456818">Schmidts et al. (2013)</a> identified 34 DYNC2H1 mutations, only 2 of which had previously been identified, in 29 (41%) of 71 patients diagnosed with asphyxiating thoracic dystrophy from 19 (33%) of 57 families. Most of the mutations were private, occurring in only 1 family. The variants included 13 terminating mutations and 21 missense mutations distributed across the gene, with some clustering of the missense mutations in functional domains. All mutations occurred in homozygous or compound heterozygous state, and no patients had 2 truncating mutations, suggesting that the human phenotype is at least partly hypomorphic. Two patients carried 3 pathogenic mutations in the DYNC2H1 gene. No functional studies were performed. The phenotype was dominated by abnormal bone development, including short ribs, small thorax, brachydactyly, and shortened long bones. Polydactyly was not a feature; only 1 patient had unilateral polydactyly. Retinal, hepatic, renal, or pancreatic involvement was rare, having been observed in 1 or 2 patients overall. Patient fibroblasts showed defects in retrograde intraflagellar transport (IFT), as demonstrated by accumulation of anterograde proteins IFT57 (<a href="/entry/606621">606621</a>) and IFT88 (<a href="/entry/600595">600595</a>) in the ciliary tips. However, the extent of this cellular defect varied significantly among patients. Ciliary length and number were similar to controls. The patients were mainly of northern European or Turkish origin, and the findings indicated that DYNC2H1 mutations are the most frequent overall cause of ATD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23456818" 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 affected members of a consanguineous family and in 2 isolated cases diagnosed with short rib-polydactyly syndrome type III, <a href="#9" class="mim-tip-reference" title="Merrill, A. E., Merriman, B., Farrington-Rock, C., Camacho, N., Sebald, E. T., Funari, V. A., Schibler, M. J., Firestein, M. H., Cohn, Z. A., Priore, M. A., Thompson, A. K., Rimoin, D. L., Nelson, S. F., Cohn, D. H., Krakow, D. <strong>Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short rib-polydactyly syndrome.</strong> Am. J. Hum. Genet. 84: 542-549, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361615[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361615">Merrill et al. (2009)</a> identified homozygosity or compound heterozygosity for mutations in the DYNC2H1 gene. The abnormalities in short rib-polydactyly syndrome are primarily related to the effect on the skeleton, reflecting an essential role for DYNC2H1 in cilia function in cartilage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an individual with short rib-polydactyly syndrome type II from a nonconsanguineous German family, <a href="#14" class="mim-tip-reference" title="Thiel, C., Kessler, K., Giessl, A., Dimmler, A., Shalev, S. A., von der Haar, S., Zenker, M., Zahnleiter, D., Stoss, H., Beinder, E., Abou Jamra, R., Ekici, A. B., Schroder-Kress, N., Aigner, T., Kirchner, T., Reis, A., Brandstatter, J. H., Rauch, A. <strong>NEK1 mutations cause short-rib polydactyly syndrome type Majewski.</strong> Am. J. Hum. Genet. 88: 106-114, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21211617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21211617</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21211617[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.12.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21211617">Thiel et al. (2011)</a> identified heterozygosity for an insertion mutation in the NEK1 gene (<a href="/entry/604588#0003">604588.0003</a>) and heterozygosity for a missense mutation in the DYNC2H1 gene (<a href="#0016">603297.0016</a>); no second mutation was found in either gene, and each parent was heterozygous for one of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21211617" 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="El Hokayem, J., Huber, C., Couve, A., Aziza, J., Baujat, G., Bouvier, R., Cavalcanti, D. P., Collins, F. A., Cordier, M.-P., Delezoide, A.-L., Gonzales, M., Johnson, D., and 11 others. <strong>NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.</strong> J. Med. Genet. 49: 227-233, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22499340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22499340</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22499340">El Hokayem et al. (2012)</a> analyzed the DYNC2H1 gene in 8 unrelated cases of short rib-polydactyly syndrome type II, all of which were either terminated pregnancies or cases of neonatal death and were negative for mutation in the NEK1 gene, and identified compound heterozygosity for mutations in DYNC2H1 in 4 cases (see, e.g., <a href="#0017">603297.0017</a>-<a href="#0020">603297.0020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22499340" 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 exome sequencing, <a href="#1" class="mim-tip-reference" title="Badiner, N., Taylor, S. P., Forlenza, K., Lachman, R. S., University of Washington Center for Mendelian Genomics, Bamshad, M., Nickerson, D., Cohn, D. H., Krakow, D. <strong>Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.</strong> Clin. Genet. 92: 158-165, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27925158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27925158</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27925158[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/10.1111/cge.12947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27925158">Badiner et al. (2017)</a> identified 3 patients with a severe phenotype thought to be most consistent with short-rib polydactyly type I. All 3 patients were compound heterozygous for mutations in DYNC2H1; 5 of the mutations were missense changes at highly conserved residues, and 1 was a null mutation. All of the mutations were rare, including 4 that had not previously been reported in public sequence databases or in patients with short-rib polydactyly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27925158" 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="#10" class="mim-tip-reference" title="Ocbina, P. J. R., Eggenschwiler, J. T., Moskowitz, I., Anderson, K. V. <strong>Complex interactions between genes controlling trafficking in primary cilia.</strong> Nature Genet. 43: 547-553, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21552265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21552265</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21552265[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/ng.832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21552265">Ocbina et al. (2011)</a> stated that null mutations in the Dync2h1 gene result in loss of Shh (<a href="/entry/600725">600725</a>)-dependent signaling in the embryonic mouse neural tube and death at around embryonic day 10.5. Immunohistochemical analysis revealed that Dync2h1 was enriched at the base of the cilium and in punctae along the axoneme of wildtype mouse embryonic fibroblasts (MEFs). In Dync2h1 -/- MEFs, cilia showed abnormal morphology and accumulation of hedgehog pathway proteins, suggesting a block in retrograde ciliary protein transport. Lowering the amount of the ciliary anterograde trafficking protein Ift172 (<a href="/entry/607386">607386</a>) to about 60% of wildtype levels partially rescued the Dync2h1 -/- phenotype, including ciliary morphology and hedgehog signaling, and extended embryo survival. Reduction in the ciliary retrograde trafficking protein Ift122 (<a href="/entry/606045">606045</a>) also suppressed the Dync2h1 -/- phenotype. <a href="#10" class="mim-tip-reference" title="Ocbina, P. J. R., Eggenschwiler, J. T., Moskowitz, I., Anderson, K. V. <strong>Complex interactions between genes controlling trafficking in primary cilia.</strong> Nature Genet. 43: 547-553, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21552265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21552265</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21552265[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/ng.832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21552265">Ocbina et al. (2011)</a> concluded that Dync2h1 is required for normal cilia architecture and retrograde transport of proteins along cilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21552265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a consanguineous Moroccan family with 2 children manifesting asphyxiating thoracic dystrophy (SRTD3; <a href="/entry/613091">613091</a>), <a href="#4" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.</strong> Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19442771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19442771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19442771">Dagoneau et al. (2009)</a> identified homozygosity for 2 missense mutations in the DYNC2H1 gene: an A-to-T transversion at nucleotide 5971, resulting in a met-to-leu substitution at codon 1991 (M1991L), and an A-to-G transition at nucleotide 11284, resulting in a met-to-val substitution at codon 3762 (M3762V; <a href="#0002">603297.0002</a>). Carriers of either of these mutations in cis on only 1 allele were asymptomatic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19442771" 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> rs137853026 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853026;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/rs137853026?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=rs137853026" 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=rs137853026" 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=RCV000006874 OR RCV000516063 OR RCV000680171 OR RCV000726973 OR RCV000754938 OR RCV004766983" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006874, RCV000516063, RCV000680171, RCV000726973, RCV000754938, RCV004766983" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006874...</a>
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<p>For discussion of the met3762-to-val (M3762V) mutation in the DYNC2H1 gene that was found in compound heterozygous state in patients with asphyxiating thoracic dystrophy (SRTD3; <a href="/entry/613091">613091</a>) by <a href="#4" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.</strong> Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19442771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19442771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19442771">Dagoneau et al. (2009)</a>, see <a href="#0001">603297.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19442771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 SHORT-RIB THORACIC DYSPLASIA 3 WITHOUT POLYDACTYLY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1565310938 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1565310938;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=rs1565310938" 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=rs1565310938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a nonconsanguineous French family with 2 fetuses clinically diagnosed with asphyxiating thoracic dystrophy (SRTD3; <a href="/entry/613091">613091</a>), <a href="#4" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.</strong> Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19442771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19442771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19442771">Dagoneau et al. (2009)</a> identified compound heterozygosity for a frameshift mutation in exon 5 of the DYNC2H1 gene, an insertion of 29 nucleotides following position 654, and a missense mutation (<a href="#0004">603297.0004</a>). The insertion mutation resulted in a glu-to-leu substitution at codon 219 followed by a frameshift with a termination codon 2 amino acids later (Glu219LeufsTer2). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19442771" 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> rs137853027 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853027;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/rs137853027?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=rs137853027" 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=rs137853027" 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=RCV000006876 OR RCV000224348 OR RCV000292391 OR RCV000386710 OR RCV000415231 OR RCV003924807" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006876, RCV000224348, RCV000292391, RCV000386710, RCV000415231, RCV003924807" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006876...</a>
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<p>In a nonconsanguineous French family with 2 fetuses clinically diagnosed with asphyxiating thoracic dystrophy (SRTD3; <a href="/entry/613091">613091</a>), <a href="#4" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.</strong> Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19442771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19442771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19442771">Dagoneau et al. (2009)</a> identified an A-to-G transition at nucleotide 9044 in exon 57 of the DYNC2H1 gene resulting in an asp-to-gly substitution at codon 3015 (D3015G). A frameshift mutation was present on the other allele (<a href="#0003">603297.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19442771" 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 affected members of 3 unrelated Dutch families (JATD-1, JATD-2, and JATD-6) with SRTD3, <a href="#13" class="mim-tip-reference" title="Schmidts, M., Arts, H. H., Bongers, E. M. H. F., Yap, Z., Oud, M. M., Antony, D., Duijkers, L., Emes, R. D., Stalker, J., Yntema, J.-B. L., Plagnol, V., Hoischen, A., and 23 others. <strong>Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.</strong> J. Med. Genet. 50: 309-323, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23456818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23456818</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23456818[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/10.1136/jmedgenet-2012-101284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23456818">Schmidts et al. (2013)</a> identified the D3015G mutation in compound heterozygous state with other mutations in the DYNC2H1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23456818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 19-year-old patient with a clinical diagnosis of asphyxiating thoracic dystrophy (SRTD3; <a href="/entry/613091">613091</a>), who was the product of a nonconsanguineous French union, <a href="#4" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.</strong> Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19442771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19442771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19442771">Dagoneau et al. (2009)</a> identified compound heterozygosity for 2 mutations in the DYNC2H1 gene: a T-to-C transition at nucleotide 3719 in exon 25, resulting in an ile-to-thr substitution at codon 1240 (I1240T), and a G-to-T transversion at nucleotide 10063 in exon 66, resulting in a gly3355-to-ter (G3355X) substitution (<a href="#0006">603297.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19442771" 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 German girl (JATD-8) with SRTD3, <a href="#13" class="mim-tip-reference" title="Schmidts, M., Arts, H. H., Bongers, E. M. H. F., Yap, Z., Oud, M. M., Antony, D., Duijkers, L., Emes, R. D., Stalker, J., Yntema, J.-B. L., Plagnol, V., Hoischen, A., and 23 others. <strong>Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.</strong> J. Med. Genet. 50: 309-323, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23456818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23456818</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23456818[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/10.1136/jmedgenet-2012-101284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23456818">Schmidts et al. (2013)</a> identified the I1240T mutation in compound heterozygous state with another mutation in the DYNC2H1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23456818" 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> rs137853029 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853029;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/rs137853029?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=rs137853029" 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=rs137853029" 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 gly3355-to-ter (G3355X) mutation in the DYNC2H1 gene that was found in compound heterozygous state in a patient with asphyxiating thoracic dystrophy (SRTD3; <a href="/entry/613091">613091</a>) by <a href="#4" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.</strong> Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19442771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19442771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19442771">Dagoneau et al. (2009)</a>, see <a href="#0005">603297.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19442771" 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> rs137853030 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853030;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/rs137853030?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=rs137853030" 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=rs137853030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 4 affected offspring, born to first-cousin parents (family R01-314), who were clinically diagnosed with short rib-polydactyly syndrome type III (SRTD3; <a href="/entry/613091">613091</a>), <a href="#9" class="mim-tip-reference" title="Merrill, A. E., Merriman, B., Farrington-Rock, C., Camacho, N., Sebald, E. T., Funari, V. A., Schibler, M. J., Firestein, M. H., Cohn, Z. A., Priore, M. A., Thompson, A. K., Rimoin, D. L., Nelson, S. F., Cohn, D. H., Krakow, D. <strong>Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short rib-polydactyly syndrome.</strong> Am. J. Hum. Genet. 84: 542-549, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361615[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361615">Merrill et al. (2009)</a> detected homozygosity for a C-to-T transition at nucleotide 1759 in exon 12 of the DYNC2H1 gene, predicted to lead to the amino acid substitution arg587 to cys (R587C). The unaffected parents and sib were heterozygous for the mutation. The authors noted that this family showed phenotypic variability, since the female proband did not have polydactyly, whereas the 3 other sibs exhibited postaxial polydactyly of both hands and feet. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361615" 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> rs137853031 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853031;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/rs137853031?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=rs137853031" 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=rs137853031" 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=RCV000006880 OR RCV000515877 OR RCV000756059" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006880, RCV000515877, RCV000756059" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006880...</a>
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<p>In a patient clinically diagnosed with short rib-polydactyly syndrome type III (SRTD3; <a href="/entry/613091">613091</a>) from a nonconsanguineous family, <a href="#9" class="mim-tip-reference" title="Merrill, A. E., Merriman, B., Farrington-Rock, C., Camacho, N., Sebald, E. T., Funari, V. A., Schibler, M. J., Firestein, M. H., Cohn, Z. A., Priore, M. A., Thompson, A. K., Rimoin, D. L., Nelson, S. F., Cohn, D. H., Krakow, D. <strong>Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short rib-polydactyly syndrome.</strong> Am. J. Hum. Genet. 84: 542-549, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361615[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361615">Merrill et al. (2009)</a> found a heterozygous 6614G-A transition in exon 41 of the DYNC2H1 gene that caused substitution of his for arg at codon 2205 (R2205H). The other DYNC2H1 allele carried a nonsense mutation (<a href="#0009">603297.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361615" 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> rs137853032 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853032;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/rs137853032?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=rs137853032" 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=rs137853032" 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=RCV000006881 OR RCV002512856" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006881, RCV002512856" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006881...</a>
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<p>In a patient clinically diagnosed with short rib-polydactyly syndrome type III (SRTD3; <a href="/entry/613091">613091</a>) from a nonconsanguineous family, <a href="#9" class="mim-tip-reference" title="Merrill, A. E., Merriman, B., Farrington-Rock, C., Camacho, N., Sebald, E. T., Funari, V. A., Schibler, M. J., Firestein, M. H., Cohn, Z. A., Priore, M. A., Thompson, A. K., Rimoin, D. L., Nelson, S. F., Cohn, D. H., Krakow, D. <strong>Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short rib-polydactyly syndrome.</strong> Am. J. Hum. Genet. 84: 542-549, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361615[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361615">Merrill et al. (2009)</a> found an 8512C-T transition in exon 53 of the DYNC2H1 gene that caused premature protein termination (R2838X), in compound heterozygosity with a missense mutation (<a href="#0008">603297.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361615" 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">rs431905498 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs431905498;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=rs431905498" 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=rs431905498" 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=RCV000006882 OR RCV000754947" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006882, RCV000754947" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006882...</a>
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<p>In a patient with a clinical diagnosis of short rib-polydactyly syndrome type III (SRTD3; <a href="/entry/613091">613091</a>) from a nonconsanguineous family, <a href="#9" class="mim-tip-reference" title="Merrill, A. E., Merriman, B., Farrington-Rock, C., Camacho, N., Sebald, E. T., Funari, V. A., Schibler, M. J., Firestein, M. H., Cohn, Z. A., Priore, M. A., Thompson, A. K., Rimoin, D. L., Nelson, S. F., Cohn, D. H., Krakow, D. <strong>Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short rib-polydactyly syndrome.</strong> Am. J. Hum. Genet. 84: 542-549, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361615[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361615">Merrill et al. (2009)</a> detected compound heterozygosity for mutations in the DYNC2H1 gene. One allele carried a change of 2 consecutive basepairs in exon 5 (624_625GT-AA). The first nucleotide change altered the last base of codon 208 without changing the encoded amino acid, and the second change predicted a phe209-to-ile (F209I) substitution. The other allele carried a splice donor site mutation (<a href="#0011">603297.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361615" 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>.0011 SHORT-RIB THORACIC DYSPLASIA 3 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">rs431905499 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs431905499;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=rs431905499" 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=rs431905499" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an individual with a clinical diagnosis of short rib-polydactyly syndrome type III (SRTD3; <a href="/entry/613091">613091</a>), <a href="#9" class="mim-tip-reference" title="Merrill, A. E., Merriman, B., Farrington-Rock, C., Camacho, N., Sebald, E. T., Funari, V. A., Schibler, M. J., Firestein, M. H., Cohn, Z. A., Priore, M. A., Thompson, A. K., Rimoin, D. L., Nelson, S. F., Cohn, D. H., Krakow, D. <strong>Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short rib-polydactyly syndrome.</strong> Am. J. Hum. Genet. 84: 542-549, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361615[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361615">Merrill et al. (2009)</a> found heterozygosity for alteration of the splice donor site of intron 33 of the DYNC2H1 gene (IVS33+1G-T). Reverse transcriptase and quantitative PCR indicated that the resulting transcript was subject to nonsense-mediated decay. The other allele carried substitution of 2 basepairs in exon 5 (<a href="#0010">603297.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361615" 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 3 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">rs137853033 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853033;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=rs137853033" 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=rs137853033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a fetus with a clinical diagnosis of short rib-polydactyly syndrome type III (SRTD3; <a href="/entry/613091">613091</a>) from a nonconsanguineous French family, <a href="#4" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.</strong> Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19442771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19442771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19442771">Dagoneau et al. (2009)</a> identified an A-to-G transition at nucleotide 4610 in exon 30 of the DYNC2H1 gene resulting in a gln-to-arg substitution at codon 1537 (Q1537R). This mutation was found in compound heterozygosity with another missense mutation (G2461V; <a href="#0013">603297.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19442771" 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>.0013 SHORT-RIB THORACIC DYSPLASIA 3 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">rs137853034 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853034;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=rs137853034" 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=rs137853034" 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=RCV000006885" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006885" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006885</a>
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<p>In a fetus with a clinical diagnosis of short rib-polydactyly syndrome type III (SRTD3; <a href="/entry/613091">613091</a>) from a nonconsanguineous French family, <a href="#4" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.</strong> Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19442771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19442771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19442771">Dagoneau et al. (2009)</a> identified a G-to-T transversion at nucleotide 7382 in exon 45 of the DYNC2H1 gene, resulting in a gly-to-val substitution at codon 2461 (G2461V). This mutation was found in compound heterozygosity with another missense mutation (Q1537R; <a href="#0012">603297.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19442771" 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>.0014 SHORT-RIB THORACIC DYSPLASIA 3 WITHOUT POLYDACTYLY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137853035 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853035;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=rs137853035" 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=rs137853035" 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=RCV000006886 OR RCV000520054" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006886, RCV000520054" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006886...</a>
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<p>In 3 fetuses with a clinical diagnosis of short rib-polydactyly syndrome type III (SRTD3; <a href="/entry/613091">613091</a>), the offspring of a nonconsanguineous couple from Madagascar, <a href="#4" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.</strong> Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19442771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19442771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19442771">Dagoneau et al. (2009)</a> identified compound heterozygosity for mutations in the DYNC2H1 gene. The paternal allele carried a 5959A-G transition in exon 38, resulting in a thr1987-to-ala (T1987A) substitution, and the maternal allele carried a 1-bp deletion (10130delT; <a href="#0015">603297.0015</a>) in exon 67 that resulted in a frameshift and premature termination (Leu3377CysfsTer34). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19442771" 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">rs431905500 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs431905500;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=rs431905500" 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=rs431905500" 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=RCV000006887 OR RCV001851710 OR RCV003229800" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006887, RCV001851710, RCV003229800" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006887...</a>
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<p>For discussion of the 1-bp deletion in the DYNC2H1 gene (10130delT) that was found in compound heterozygous state in 3 fetuses with short rib-polydactyly syndrome type III (SRTD3; <a href="/entry/613091">613091</a>) by <a href="#4" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. <strong>DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.</strong> Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19442771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19442771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19442771">Dagoneau et al. (2009)</a>, see <a href="#0014">603297.0014</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19442771" 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>.0016 SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC</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> rs201479015 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201479015;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/rs201479015?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=rs201479015" 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=rs201479015" 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=RCV000023292 OR RCV000180413 OR RCV001243113 OR RCV004767017 OR RCV004814920" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023292, RCV000180413, RCV001243113, RCV004767017, RCV004814920" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023292...</a>
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<p>In an individual with a clinical diagnosis of short rib-polydactyly syndrome type III (SRTD3; <a href="/entry/613091">613091</a>) from a nonconsanguineous family of German origin, <a href="#14" class="mim-tip-reference" title="Thiel, C., Kessler, K., Giessl, A., Dimmler, A., Shalev, S. A., von der Haar, S., Zenker, M., Zahnleiter, D., Stoss, H., Beinder, E., Abou Jamra, R., Ekici, A. B., Schroder-Kress, N., Aigner, T., Kirchner, T., Reis, A., Brandstatter, J. H., Rauch, A. <strong>NEK1 mutations cause short-rib polydactyly syndrome type Majewski.</strong> Am. J. Hum. Genet. 88: 106-114, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21211617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21211617</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21211617[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.12.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21211617">Thiel et al. (2011)</a> identified a heterozygous 11747G-A transition in the DYNC2H1 gene, resulting in a gly3916-to-asp (G3916D) substitution; this individual was also heterozygous for a 1-bp insertion (1640insA) in the NEK1 gene (<a href="/entry/604588#0003">604588.0003</a>). No second mutation was found in either gene, and each parent was heterozygous for one of the mutations, which were not found in 382 population-matched control chromosomes. Thus, biallelic digenic inheritance was indicated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21211617" 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>.0017 SHORT-RIB THORACIC DYSPLASIA 3 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> rs397514635 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514635;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/rs397514635?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=rs397514635" 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=rs397514635" 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=RCV000033158" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033158" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033158</a>
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<p>In a male fetus with a clinical diagnosis with short rib-polydactyly syndrome type III (SRTD3; <a href="/entry/613091">613091</a>) from a pregnancy terminated at 15 weeks, <a href="#5" class="mim-tip-reference" title="El Hokayem, J., Huber, C., Couve, A., Aziza, J., Baujat, G., Bouvier, R., Cavalcanti, D. P., Collins, F. A., Cordier, M.-P., Delezoide, A.-L., Gonzales, M., Johnson, D., and 11 others. <strong>NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.</strong> J. Med. Genet. 49: 227-233, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22499340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22499340</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22499340">El Hokayem et al. (2012)</a> identified compound heterozygosity for 2 missense mutations in the DYNC2H1 gene: a 7985G-A transition in exon 49, resulting in an arg2662-to-gln (R2662Q) substitution, and a 7486C-T transition in exon 46, resulting in a pro2496-to-ser (P2496S; <a href="#0018">603297.0018</a>) substitution in the ATP binding and hydrolysis domain. The nonconsanguineous Vietnamese parents were each heterozygous for 1 of the mutations, neither of which was found in 200 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22499340" 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>.0018 SHORT-RIB THORACIC DYSPLASIA 3 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">rs397514636 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514636;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=rs397514636" 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=rs397514636" 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=RCV000033159" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033159" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033159</a>
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<p>For discussion of the pro2496-to-ser (P2496S) mutation in the DYNC2H1 gene that was found in compound heterozygous state in a fetus with short rib-polydactyly syndrome type III (SRTD3; <a href="/entry/613091">613091</a>) by <a href="#5" class="mim-tip-reference" title="El Hokayem, J., Huber, C., Couve, A., Aziza, J., Baujat, G., Bouvier, R., Cavalcanti, D. P., Collins, F. A., Cordier, M.-P., Delezoide, A.-L., Gonzales, M., Johnson, D., and 11 others. <strong>NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.</strong> J. Med. Genet. 49: 227-233, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22499340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22499340</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22499340">El Hokayem et al. (2012)</a>, see <a href="#0017">603297.0017</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22499340" 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>.0019 SHORT-RIB THORACIC DYSPLASIA 3 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> rs397514637 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514637;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/rs397514637?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=rs397514637" 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=rs397514637" 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=RCV000033160 OR RCV000515863" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033160, RCV000515863" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033160...</a>
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<p>In a male fetus with a clinical diagnosis of short rib-polydactyly syndrome type III (SRTD3; <a href="/entry/613091">613091</a>) from a pregnancy terminated at 15 weeks, <a href="#5" class="mim-tip-reference" title="El Hokayem, J., Huber, C., Couve, A., Aziza, J., Baujat, G., Bouvier, R., Cavalcanti, D. P., Collins, F. A., Cordier, M.-P., Delezoide, A.-L., Gonzales, M., Johnson, D., and 11 others. <strong>NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.</strong> J. Med. Genet. 49: 227-233, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22499340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22499340</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22499340">El Hokayem et al. (2012)</a> identified compound heterozygosity for a missense and a frameshift mutation in the DYNC2H1 gene: a 988C-T transition in exon 6, resulting in an arg330-to-cys (R330C) substitution in N-terminal region 1, and a 1-bp deletion (8534delA) in exon 53, causing a frameshift predicted to result in a premature termination codon (Asn2845IlefsTer8; <a href="#0020">603297.0020</a>). The nonconsanguineous Haitian parents were each heterozygous for 1 of the mutations, neither of which was found in 200 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22499340" 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>.0020 SHORT-RIB THORACIC DYSPLASIA 3 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">rs431905507 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs431905507;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=rs431905507" 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=rs431905507" 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=RCV000033161 OR RCV003764653" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033161, RCV003764653" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033161...</a>
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<p>For discussion of the 1-bp deletion in the DYNC2H1 gene (8534delA) that was found in compound heterozygous state in a fetus with short rib-polydactyly syndrome type III (SRTD3; <a href="/entry/613091">613091</a>) by <a href="#5" class="mim-tip-reference" title="El Hokayem, J., Huber, C., Couve, A., Aziza, J., Baujat, G., Bouvier, R., Cavalcanti, D. P., Collins, F. A., Cordier, M.-P., Delezoide, A.-L., Gonzales, M., Johnson, D., and 11 others. <strong>NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.</strong> J. Med. Genet. 49: 227-233, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22499340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22499340</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22499340">El Hokayem et al. (2012)</a>, see <a href="#0019">603297.0019</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22499340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Badiner2017" class="mim-anchor"></a>
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<strong>Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.</strong>
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Clin. Genet. 92: 158-165, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27925158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27925158</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27925158[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=27925158" 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.12947" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9450951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9450951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9450951[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=9450951" 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.9.2.237" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1242/jcs.109.7.1891" target="_blank">Full Text</a>]
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<a id="Dagoneau2009" class="mim-anchor"></a>
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Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V.
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<strong>DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.</strong>
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Am. J. Hum. Genet. 84: 706-711, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19442771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19442771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[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=19442771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2009.04.016" target="_blank">Full Text</a>]
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El Hokayem, J., Huber, C., Couve, A., Aziza, J., Baujat, G., Bouvier, R., Cavalcanti, D. P., Collins, F. A., Cordier, M.-P., Delezoide, A.-L., Gonzales, M., Johnson, D., and 11 others.
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<strong>NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.</strong>
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J. Med. Genet. 49: 227-233, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22499340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22499340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22499340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2011-100717" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1091/mbc.5.1.57" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1997.4903" target="_blank">Full Text</a>]
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Merrill, A. E., Merriman, B., Farrington-Rock, C., Camacho, N., Sebald, E. T., Funari, V. A., Schibler, M. J., Firestein, M. H., Cohn, Z. A., Priore, M. A., Thompson, A. K., Rimoin, D. L., Nelson, S. F., Cohn, D. H., Krakow, D.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361615[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=19361615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2009.03.015" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng.832" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937072</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15937072[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=15937072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2005.033001" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Schmidt2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schmidt, H., Zalyte, R., Urnavicius, L., Carter, A. P.
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<strong>Structure of human cytoplasmic dynein-2 primed for its power stroke.</strong>
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Nature 518: 435-438, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470043</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470043[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=25470043" 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/nature14023" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Schmidts2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schmidts, M., Arts, H. H., Bongers, E. M. H. F., Yap, Z., Oud, M. M., Antony, D., Duijkers, L., Emes, R. D., Stalker, J., Yntema, J.-B. L., Plagnol, V., Hoischen, A., and 23 others.
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<strong>Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.</strong>
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J. Med. Genet. 50: 309-323, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23456818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23456818</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23456818[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=23456818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2012-101284" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Thiel2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thiel, C., Kessler, K., Giessl, A., Dimmler, A., Shalev, S. A., von der Haar, S., Zenker, M., Zahnleiter, D., Stoss, H., Beinder, E., Abou Jamra, R., Ekici, A. B., Schroder-Kress, N., Aigner, T., Kirchner, T., Reis, A., Brandstatter, J. H., Rauch, A.
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<strong>NEK1 mutations cause short-rib polydactyly syndrome type Majewski.</strong>
|
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Am. J. Hum. Genet. 88: 106-114, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21211617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21211617</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21211617[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=21211617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.12.004" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Vaisberg1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vaisberg, E. A., Grissom, P. M., McIntosh, J. R.
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<strong>Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles.</strong>
|
|
J. Cell Biol. 133: 831-842, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8666668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8666668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8666668" 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/10.1083/jcb.133.4.831" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Vaughan1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vaughan, K. T., Mikami, A., Paschal, B. M., Holzbaur, E. L. F., Hughes, S. M., Echeverri, C. J., Moore, K. J., Gilbert, D. J., Copeland, N. G., Jenkins, N. A., Vallee, R. B.
|
|
<strong>Multiple mouse chromosomal loci for dynein-based motility.</strong>
|
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Genomics 36: 29-38, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8812413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8812413</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8812413" 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/10.1006/geno.1996.0422" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Sonja A. Rasmussen - updated : 04/09/2019
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 02/06/2018<br>Ada Hamosh - updated : 3/12/2015<br>Matthew B. Gross - updated : 5/24/2013<br>Cassandra L. Kniffin - updated : 5/22/2013<br>Marla J. F. O'Neill - updated : 2/19/2013<br>Patricia A. Hartz - updated : 8/31/2011<br>Nara Sobreira - updated : 2/2/2011<br>Ada Hamosh - updated : 10/19/2009<br>Ada Hamosh - updated : 10/6/2009<br>Patricia A. Hartz - updated : 4/19/2006<br>Rebekah S. Rasooly - updated : 12/4/1998
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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<div 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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Rebekah S. Rasooly : 11/18/1998
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/24/2022
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 04/09/2019<br>carol : 02/06/2018<br>mcolton : 04/06/2015<br>alopez : 3/12/2015<br>carol : 11/26/2014<br>carol : 2/10/2014<br>mgross : 5/24/2013<br>carol : 5/23/2013<br>carol : 5/23/2013<br>ckniffin : 5/22/2013<br>alopez : 2/20/2013<br>alopez : 2/20/2013<br>terry : 2/19/2013<br>carol : 6/22/2012<br>carol : 4/12/2012<br>carol : 11/18/2011<br>mgross : 8/31/2011<br>terry : 8/31/2011<br>carol : 2/2/2011<br>carol : 2/2/2011<br>alopez : 10/19/2009<br>alopez : 10/19/2009<br>alopez : 10/18/2009<br>terry : 10/6/2009<br>mgross : 4/19/2006<br>dkim : 12/18/1998<br>alopez : 12/4/1998<br>psherman : 12/2/1998<br>alopez : 11/20/1998<br>alopez : 11/18/1998
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</span>
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</div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603297
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<div>
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<h3>
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<span class="mim-font">
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DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1; DYNC2H1
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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DNCH2; DHC2<br />
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DYNEIN HEAVY CHAIN, ISOTYPE 1B; DHC1B
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</span>
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</h4>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DYNC2H1</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 726032008;
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</span>
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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: 11q22.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:103,109,426-103,479,863 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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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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<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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11q22.3
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</td>
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<td>
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<span class="mim-font">
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Short-rib thoracic dysplasia 3 with or without polydactyly
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</span>
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</td>
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<td>
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<span class="mim-font">
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613091
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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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Autosomal recessive; Digenic recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The DYNC2H1 gene encodes a protein involved in ciliary intraflagellar transport (IFT), an evolutionarily conserved process that is essential for ciliogenesis and plays a role in cell signaling events. DYNC2H1 is the central ATPase subunit of the IFT dynein-2 complex, the principal minus-end directed microtubule motor that drives retrograde transport of the IFT-A protein complex that regulates tip-to-base transport in cilia. DYNC2H1 has a typical dynein heavy chain organization (summary by Schmidts et al., 2013). </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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<h4>
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<span class="mim-font">
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<strong>Gene Family</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Dyneins are a family of high molecular mass motor proteins that produce directed movement along microtubules. The dynein family is divided into 2 functional classes. The axonemal dyneins constitute the outer and inner arms on the doublet microtubules of ciliary and flagellar axonemes, where they generate the localized sliding motion between doublets that underlies the oscillatory beating of these organelles. Cytoplasmic dynein participates in numerous cellular activities. Both axonemal and cytoplasmic dyneins are multisubunit proteins containing 2 or 3 heavy chain polypeptide subunits of molecular mass greater than 500 kD, as well as 5 to 8 subunits of smaller size (summary by Gibbons et al., 1994). Within the dynein complex, the dynein heavy chain is the actual motor. The intermediate chains of both cytoplasmic and axonemal dynein appear to play a role in directing the dynein molecule to its appropriate subcellular target site. The light intermediate chains, with molecular masses of 55 to 59 kD, are unique to cytoplasmic dynein and contain consensus ATPase elements. Both axonemal and cytoplasmic dyneins also contain light chains of 8 to 25 kD (summary by Vaughan et al., 1996). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</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>Gibbons et al. (1994) identified DYH1b, a sea urchin dynein heavy chain related to the principal cytoplasmic dynein heavy chain, DYH1a (see DNCL, 600112). Criswell et al. (1996) cloned cDNAs encoding DHC1b, the rat DYH1b homolog. Quantitative RT-PCR revealed that DHC1b is expressed in ciliated and nonciliated tissues. By immunofluorescence, the authors found that DHC1b is present in the cytoplasm of ciliated rat tracheal epithelial (RTE) cells, often accumulating at the apical ends of cells. However, the protein did not appear to be a component of RTE cilia. Criswell et al. (1996) suggested that DHC1b is a cytoplasmic dynein that may participate in intracellular trafficking in polarized cells. Criswell and Asai (1998) found that rat testis contains 3 DHC1b-like dynein heavy chains, one of which is the product of the DHC1b gene. </p><p>By RT-PCR with degenerate primers based on a conserved region of dynein heavy chains, Vaisberg et al. (1996) isolated cDNAs encoding DHC2. They considered DHC2 to be the human DYH1b homolog because the predicted partial protein sequences are 92% identical. DHC2 is a highly diverged member of the cytoplasmic dynein heavy chain family; it shares only 34% identity with DNCL. Using immunofluorescence, Vaisberg et al. (1996) localized DHC2 predominantly to the Golgi apparatus. The Golgi dispersed upon microinjection of antibodies against DHC2, suggesting that this motor is involved in establishing proper Golgi organization. Northern blot analysis demonstrated that DHC2 is expressed as an approximately 15-kb mRNA in various mammalian cell lines and human tissues, including those that make neither cilia nor flagella. </p><p>Dagoneau et al. (2009) stated that the human DYNC2H1 gene encodes a 4,314-amino acid protein. </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 Structure</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>Merrill et al. (2009) stated that the human DYNC2H1 gene contains 90 exons. </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>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Crystal Structure</em></strong></p><p>
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Schmidt et al. (2015) presented the crystal structure of the human cytoplasmic dynein-2 motor bound to the ATP-hydrolysis transition state analog ADP-vanadate. The structure revealed a closure of the motor's ring of 6 AAA+ domains (ATPases associated with various cellular activities: AAA1-AAA6). This induces a steric clash with the linker, the key element for the generation of movement, driving it into a conformation that is primed to produce force. Ring closure also changes the interface between the stalk and buttress coiled-coil extensions of the motor domain. This drives helix sliding in the stalk, which causes the microtubule binding domain at its tip to release from the microtubule. Schmidt et al. (2015) concluded that their structure elucidates how ATP hydrolysis leads to linker remodeling and microtubule affinity regulation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By analysis of somatic cell and radiation hybrid panels, Kastury et al. (1997) mapped the DNCH2 gene to chromosome 11q13.5. By genomic sequence analysis, Pazour et al. (2006) mapped the DNCH2 gene to chromosome 11q21-q22.1. </p><p>Gross (2013) mapped the DYNC2H1 gene to chromosome 11q22.3 based on an alignment of the DYNC2H1 sequence (GenBank AB290167) with the genomic sequence (GRCh37).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Homozygous and compound heterozygous mutations in the DYNC2H1 gene have been identified in patients with short-rib thoracic dysplasia-3 with or without polydactyly (SRTD3; 613091). This disorder has been referred to as asphyxiating thoracic dysplasia-3 (ATD3), Jeune syndrome, and short-rib polydactyly types I (SRPS1), IIB (SRPS2B), and III (SRPS3).</p><p>Dagoneau et al. (2009) identified biallelic mutations in the DYNC2H1 gene (see, e.g., 603297.0001-603297.0006) in patients diagnosed </p><p>with asphyxiating thoracic dystrophy and in patients diagnosed with short rib-polydactyly type III. Their findings demonstrated that ATD and SRPS III belong to the same heterogeneous spectrum of conditions and are allelic disorders.</p><p>Using a combination of SNP mapping, exome sequencing, and Sanger sequencing, Schmidts et al. (2013) identified 34 DYNC2H1 mutations, only 2 of which had previously been identified, in 29 (41%) of 71 patients diagnosed with asphyxiating thoracic dystrophy from 19 (33%) of 57 families. Most of the mutations were private, occurring in only 1 family. The variants included 13 terminating mutations and 21 missense mutations distributed across the gene, with some clustering of the missense mutations in functional domains. All mutations occurred in homozygous or compound heterozygous state, and no patients had 2 truncating mutations, suggesting that the human phenotype is at least partly hypomorphic. Two patients carried 3 pathogenic mutations in the DYNC2H1 gene. No functional studies were performed. The phenotype was dominated by abnormal bone development, including short ribs, small thorax, brachydactyly, and shortened long bones. Polydactyly was not a feature; only 1 patient had unilateral polydactyly. Retinal, hepatic, renal, or pancreatic involvement was rare, having been observed in 1 or 2 patients overall. Patient fibroblasts showed defects in retrograde intraflagellar transport (IFT), as demonstrated by accumulation of anterograde proteins IFT57 (606621) and IFT88 (600595) in the ciliary tips. However, the extent of this cellular defect varied significantly among patients. Ciliary length and number were similar to controls. The patients were mainly of northern European or Turkish origin, and the findings indicated that DYNC2H1 mutations are the most frequent overall cause of ATD. </p><p>In affected members of a consanguineous family and in 2 isolated cases diagnosed with short rib-polydactyly syndrome type III, Merrill et al. (2009) identified homozygosity or compound heterozygosity for mutations in the DYNC2H1 gene. The abnormalities in short rib-polydactyly syndrome are primarily related to the effect on the skeleton, reflecting an essential role for DYNC2H1 in cilia function in cartilage. </p><p>In an individual with short rib-polydactyly syndrome type II from a nonconsanguineous German family, Thiel et al. (2011) identified heterozygosity for an insertion mutation in the NEK1 gene (604588.0003) and heterozygosity for a missense mutation in the DYNC2H1 gene (603297.0016); no second mutation was found in either gene, and each parent was heterozygous for one of the mutations. </p><p>El Hokayem et al. (2012) analyzed the DYNC2H1 gene in 8 unrelated cases of short rib-polydactyly syndrome type II, all of which were either terminated pregnancies or cases of neonatal death and were negative for mutation in the NEK1 gene, and identified compound heterozygosity for mutations in DYNC2H1 in 4 cases (see, e.g., 603297.0017-603297.0020). </p><p>Using exome sequencing, Badiner et al. (2017) identified 3 patients with a severe phenotype thought to be most consistent with short-rib polydactyly type I. All 3 patients were compound heterozygous for mutations in DYNC2H1; 5 of the mutations were missense changes at highly conserved residues, and 1 was a null mutation. All of the mutations were rare, including 4 that had not previously been reported in public sequence databases or in patients with short-rib polydactyly. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ocbina et al. (2011) stated that null mutations in the Dync2h1 gene result in loss of Shh (600725)-dependent signaling in the embryonic mouse neural tube and death at around embryonic day 10.5. Immunohistochemical analysis revealed that Dync2h1 was enriched at the base of the cilium and in punctae along the axoneme of wildtype mouse embryonic fibroblasts (MEFs). In Dync2h1 -/- MEFs, cilia showed abnormal morphology and accumulation of hedgehog pathway proteins, suggesting a block in retrograde ciliary protein transport. Lowering the amount of the ciliary anterograde trafficking protein Ift172 (607386) to about 60% of wildtype levels partially rescued the Dync2h1 -/- phenotype, including ciliary morphology and hedgehog signaling, and extended embryo survival. Reduction in the ciliary retrograde trafficking protein Ift122 (606045) also suppressed the Dync2h1 -/- phenotype. Ocbina et al. (2011) concluded that Dync2h1 is required for normal cilia architecture and retrograde transport of proteins along cilia. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>20 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">
|
|
<strong>.0001 SHORT-RIB THORACIC DYSPLASIA 3 WITHOUT POLYDACTYLY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DYNC2H1, MET1991LEU
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<br />
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SNP: rs137853025,
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gnomAD: rs137853025,
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ClinVar: RCV000006873, RCV000680171, RCV000754938, RCV003586122, RCV004018053
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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 consanguineous Moroccan family with 2 children manifesting asphyxiating thoracic dystrophy (SRTD3; 613091), Dagoneau et al. (2009) identified homozygosity for 2 missense mutations in the DYNC2H1 gene: an A-to-T transversion at nucleotide 5971, resulting in a met-to-leu substitution at codon 1991 (M1991L), and an A-to-G transition at nucleotide 11284, resulting in a met-to-val substitution at codon 3762 (M3762V; 603297.0002). Carriers of either of these mutations in cis on only 1 allele were asymptomatic. </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>.0002 SHORT-RIB THORACIC DYSPLASIA 3 WITHOUT POLYDACTYLY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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|
DYNC2H1, MET3762VAL
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<br />
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SNP: rs137853026,
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gnomAD: rs137853026,
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ClinVar: RCV000006874, RCV000516063, RCV000680171, RCV000726973, RCV000754938, RCV004766983
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the met3762-to-val (M3762V) mutation in the DYNC2H1 gene that was found in compound heterozygous state in patients with asphyxiating thoracic dystrophy (SRTD3; 613091) by Dagoneau et al. (2009), see 603297.0001. </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>
|
|
<span class="mim-font">
|
|
<strong>.0003 SHORT-RIB THORACIC DYSPLASIA 3 WITHOUT POLYDACTYLY</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
DYNC2H1, 29-BP INS, NT654
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<br />
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|
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SNP: rs1565310938,
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ClinVar: RCV000006875
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</span>
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</div>
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<div>
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|
<span class="mim-text-font">
|
|
<p>In a nonconsanguineous French family with 2 fetuses clinically diagnosed with asphyxiating thoracic dystrophy (SRTD3; 613091), Dagoneau et al. (2009) identified compound heterozygosity for a frameshift mutation in exon 5 of the DYNC2H1 gene, an insertion of 29 nucleotides following position 654, and a missense mutation (603297.0004). The insertion mutation resulted in a glu-to-leu substitution at codon 219 followed by a frameshift with a termination codon 2 amino acids later (Glu219LeufsTer2). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 SHORT-RIB THORACIC DYSPLASIA 3 WITHOUT 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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|
|
DYNC2H1, ASP3015GLY
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<br />
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|
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SNP: rs137853027,
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gnomAD: rs137853027,
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|
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ClinVar: RCV000006876, RCV000224348, RCV000292391, RCV000386710, RCV000415231, RCV003924807
|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a nonconsanguineous French family with 2 fetuses clinically diagnosed with asphyxiating thoracic dystrophy (SRTD3; 613091), Dagoneau et al. (2009) identified an A-to-G transition at nucleotide 9044 in exon 57 of the DYNC2H1 gene resulting in an asp-to-gly substitution at codon 3015 (D3015G). A frameshift mutation was present on the other allele (603297.0003). </p><p>In affected members of 3 unrelated Dutch families (JATD-1, JATD-2, and JATD-6) with SRTD3, Schmidts et al. (2013) identified the D3015G mutation in compound heterozygous state with other mutations in the DYNC2H1 gene. </p>
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|
</span>
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</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 SHORT-RIB THORACIC DYSPLASIA 3 WITHOUT POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
DYNC2H1, ILE1240THR
|
|
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|
|
|
<br />
|
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|
|
SNP: rs137853028,
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|
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|
|
|
gnomAD: rs137853028,
|
|
|
|
|
|
ClinVar: RCV000006877, RCV003586123
|
|
|
|
|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 19-year-old patient with a clinical diagnosis of asphyxiating thoracic dystrophy (SRTD3; 613091), who was the product of a nonconsanguineous French union, Dagoneau et al. (2009) identified compound heterozygosity for 2 mutations in the DYNC2H1 gene: a T-to-C transition at nucleotide 3719 in exon 25, resulting in an ile-to-thr substitution at codon 1240 (I1240T), and a G-to-T transversion at nucleotide 10063 in exon 66, resulting in a gly3355-to-ter (G3355X) substitution (603297.0006). </p><p>In a German girl (JATD-8) with SRTD3, Schmidts et al. (2013) identified the I1240T mutation in compound heterozygous state with another mutation in the DYNC2H1 gene. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 SHORT-RIB THORACIC DYSPLASIA 3 WITHOUT POLYDACTYLY</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
DYNC2H1, GLY3355TER
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<br />
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SNP: rs137853029,
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gnomAD: rs137853029,
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|
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ClinVar: RCV000006878
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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 gly3355-to-ter (G3355X) mutation in the DYNC2H1 gene that was found in compound heterozygous state in a patient with asphyxiating thoracic dystrophy (SRTD3; 613091) by Dagoneau et al. (2009), see 603297.0005. </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>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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|
DYNC2H1, ARG587CYS
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<br />
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|
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SNP: rs137853030,
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gnomAD: rs137853030,
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ClinVar: RCV000006879, RCV001851709
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 4 affected offspring, born to first-cousin parents (family R01-314), who were clinically diagnosed with short rib-polydactyly syndrome type III (SRTD3; 613091), Merrill et al. (2009) detected homozygosity for a C-to-T transition at nucleotide 1759 in exon 12 of the DYNC2H1 gene, predicted to lead to the amino acid substitution arg587 to cys (R587C). The unaffected parents and sib were heterozygous for the mutation. The authors noted that this family showed phenotypic variability, since the female proband did not have polydactyly, whereas the 3 other sibs exhibited postaxial polydactyly of both hands and feet. </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>.0008 SHORT-RIB THORACIC DYSPLASIA 3 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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DYNC2H1, ARG2205HIS
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<br />
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SNP: rs137853031,
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gnomAD: rs137853031,
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ClinVar: RCV000006880, RCV000515877, RCV000756059
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient clinically diagnosed with short rib-polydactyly syndrome type III (SRTD3; 613091) from a nonconsanguineous family, Merrill et al. (2009) found a heterozygous 6614G-A transition in exon 41 of the DYNC2H1 gene that caused substitution of his for arg at codon 2205 (R2205H). The other DYNC2H1 allele carried a nonsense mutation (603297.0009). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0009 SHORT-RIB THORACIC DYSPLASIA 3 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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DYNC2H1, ARG2838TER
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<br />
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SNP: rs137853032,
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gnomAD: rs137853032,
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|
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ClinVar: RCV000006881, RCV002512856
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|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient clinically diagnosed with short rib-polydactyly syndrome type III (SRTD3; 613091) from a nonconsanguineous family, Merrill et al. (2009) found an 8512C-T transition in exon 53 of the DYNC2H1 gene that caused premature protein termination (R2838X), in compound heterozygosity with a missense mutation (603297.0008). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0010 SHORT-RIB THORACIC DYSPLASIA 3 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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DYNC2H1, 2-BP DEL/INS
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<br />
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SNP: rs431905498,
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ClinVar: RCV000006882, RCV000754947
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with a clinical diagnosis of short rib-polydactyly syndrome type III (SRTD3; 613091) from a nonconsanguineous family, Merrill et al. (2009) detected compound heterozygosity for mutations in the DYNC2H1 gene. One allele carried a change of 2 consecutive basepairs in exon 5 (624_625GT-AA). The first nucleotide change altered the last base of codon 208 without changing the encoded amino acid, and the second change predicted a phe209-to-ile (F209I) substitution. The other allele carried a splice donor site mutation (603297.0011). </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 SHORT-RIB THORACIC DYSPLASIA 3 WITH POLYDACTYLY</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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DYNC2H1, IVS33, G-T, +1
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<br />
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SNP: rs431905499,
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|
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ClinVar: RCV000006883
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|
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|
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</span>
|
|
</div>
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|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an individual with a clinical diagnosis of short rib-polydactyly syndrome type III (SRTD3; 613091), Merrill et al. (2009) found heterozygosity for alteration of the splice donor site of intron 33 of the DYNC2H1 gene (IVS33+1G-T). Reverse transcriptase and quantitative PCR indicated that the resulting transcript was subject to nonsense-mediated decay. The other allele carried substitution of 2 basepairs in exon 5 (603297.0010). </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>.0012 SHORT-RIB THORACIC DYSPLASIA 3 WITH POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
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|
|
|
DYNC2H1, GLN1537ARG
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|
|
<br />
|
|
|
|
SNP: rs137853033,
|
|
|
|
|
|
|
|
ClinVar: RCV000006884
|
|
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|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a fetus with a clinical diagnosis of short rib-polydactyly syndrome type III (SRTD3; 613091) from a nonconsanguineous French family, Dagoneau et al. (2009) identified an A-to-G transition at nucleotide 4610 in exon 30 of the DYNC2H1 gene resulting in a gln-to-arg substitution at codon 1537 (Q1537R). This mutation was found in compound heterozygosity with another missense mutation (G2461V; 603297.0013). </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 SHORT-RIB THORACIC DYSPLASIA 3 WITH POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
DYNC2H1, GLY2461VAL
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|
|
<br />
|
|
|
|
SNP: rs137853034,
|
|
|
|
|
|
|
|
ClinVar: RCV000006885
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a fetus with a clinical diagnosis of short rib-polydactyly syndrome type III (SRTD3; 613091) from a nonconsanguineous French family, Dagoneau et al. (2009) identified a G-to-T transversion at nucleotide 7382 in exon 45 of the DYNC2H1 gene, resulting in a gly-to-val substitution at codon 2461 (G2461V). This mutation was found in compound heterozygosity with another missense mutation (Q1537R; 603297.0012). </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 SHORT-RIB THORACIC DYSPLASIA 3 WITHOUT POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DYNC2H1, THR1987ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137853035,
|
|
|
|
|
|
|
|
ClinVar: RCV000006886, RCV000520054
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 fetuses with a clinical diagnosis of short rib-polydactyly syndrome type III (SRTD3; 613091), the offspring of a nonconsanguineous couple from Madagascar, Dagoneau et al. (2009) identified compound heterozygosity for mutations in the DYNC2H1 gene. The paternal allele carried a 5959A-G transition in exon 38, resulting in a thr1987-to-ala (T1987A) substitution, and the maternal allele carried a 1-bp deletion (10130delT; 603297.0015) in exon 67 that resulted in a frameshift and premature termination (Leu3377CysfsTer34). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 SHORT-RIB THORACIC DYSPLASIA 3 WITHOUT POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DYNC2H1, 1-BP DEL, 10130T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs431905500,
|
|
|
|
|
|
|
|
ClinVar: RCV000006887, RCV001851710, RCV003229800
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion in the DYNC2H1 gene (10130delT) that was found in compound heterozygous state in 3 fetuses with short rib-polydactyly syndrome type III (SRTD3; 613091) by Dagoneau et al. (2009), see 603297.0014. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DYNC2H1, GLY3916ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs201479015,
|
|
|
|
|
|
gnomAD: rs201479015,
|
|
|
|
|
|
ClinVar: RCV000023292, RCV000180413, RCV001243113, RCV004767017, RCV004814920
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an individual with a clinical diagnosis of short rib-polydactyly syndrome type III (SRTD3; 613091) from a nonconsanguineous family of German origin, Thiel et al. (2011) identified a heterozygous 11747G-A transition in the DYNC2H1 gene, resulting in a gly3916-to-asp (G3916D) substitution; this individual was also heterozygous for a 1-bp insertion (1640insA) in the NEK1 gene (604588.0003). No second mutation was found in either gene, and each parent was heterozygous for one of the mutations, which were not found in 382 population-matched control chromosomes. Thus, biallelic digenic inheritance was indicated. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 SHORT-RIB THORACIC DYSPLASIA 3 WITH POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DYNC2H1, ARG2662GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514635,
|
|
|
|
|
|
gnomAD: rs397514635,
|
|
|
|
|
|
ClinVar: RCV000033158
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male fetus with a clinical diagnosis with short rib-polydactyly syndrome type III (SRTD3; 613091) from a pregnancy terminated at 15 weeks, El Hokayem et al. (2012) identified compound heterozygosity for 2 missense mutations in the DYNC2H1 gene: a 7985G-A transition in exon 49, resulting in an arg2662-to-gln (R2662Q) substitution, and a 7486C-T transition in exon 46, resulting in a pro2496-to-ser (P2496S; 603297.0018) substitution in the ATP binding and hydrolysis domain. The nonconsanguineous Vietnamese parents were each heterozygous for 1 of the mutations, neither of which was found in 200 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 SHORT-RIB THORACIC DYSPLASIA 3 WITH POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DYNC2H1, PRO2496SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514636,
|
|
|
|
|
|
|
|
ClinVar: RCV000033159
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the pro2496-to-ser (P2496S) mutation in the DYNC2H1 gene that was found in compound heterozygous state in a fetus with short rib-polydactyly syndrome type III (SRTD3; 613091) by El Hokayem et al. (2012), see 603297.0017. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 SHORT-RIB THORACIC DYSPLASIA 3 WITH POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DYNC2H1, ARG330CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514637,
|
|
|
|
|
|
gnomAD: rs397514637,
|
|
|
|
|
|
ClinVar: RCV000033160, RCV000515863
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male fetus with a clinical diagnosis of short rib-polydactyly syndrome type III (SRTD3; 613091) from a pregnancy terminated at 15 weeks, El Hokayem et al. (2012) identified compound heterozygosity for a missense and a frameshift mutation in the DYNC2H1 gene: a 988C-T transition in exon 6, resulting in an arg330-to-cys (R330C) substitution in N-terminal region 1, and a 1-bp deletion (8534delA) in exon 53, causing a frameshift predicted to result in a premature termination codon (Asn2845IlefsTer8; 603297.0020). The nonconsanguineous Haitian parents were each heterozygous for 1 of the mutations, neither of which was found in 200 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 SHORT-RIB THORACIC DYSPLASIA 3 WITH POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DYNC2H1, 1-BP DEL, 8534A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs431905507,
|
|
|
|
|
|
|
|
ClinVar: RCV000033161, RCV003764653
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion in the DYNC2H1 gene (8534delA) that was found in compound heterozygous state in a fetus with short rib-polydactyly syndrome type III (SRTD3; 613091) by El Hokayem et al. (2012), see 603297.0019. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
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|
|
|
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|
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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">
|
|
Badiner, N., Taylor, S. P., Forlenza, K., Lachman, R. S., University of Washington Center for Mendelian Genomics, Bamshad, M., Nickerson, D., Cohn, D. H., Krakow, D.
|
|
<strong>Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.</strong>
|
|
Clin. Genet. 92: 158-165, 2017.
|
|
|
|
|
|
[PubMed: 27925158]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/cge.12947]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Criswell, P. S., Asai, D. J.
|
|
<strong>Evidence for four cytoplasmic dynein heavy chain isoforms in rat testis.</strong>
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<strong>Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.</strong>
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