3388 lines
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Entry
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- *614194 - DEDICATOR OF CYTOKINESIS 6; DOCK6
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- OMIM
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<p>
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<span class="h4">*614194</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/614194">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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 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 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=ENSG00000130158;t=ENST00000294618" 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=57572" 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=614194" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</div>
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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=ENSG00000130158;t=ENST00000294618" 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_001367830,NM_020812,XM_005260000,XM_006722804,XM_011528150,XM_011528151,XM_011528152,XM_047439124,XM_047439125,XM_047439126,XM_047439127" 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_020812" 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=614194" 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://www.proteinatlas.org/search/DOCK6" 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/30802144,31455231,119604585,119604586,119604587,119604588,119604589,119604590,148922290,157426887,194380746,221045514,296439370,530415042,578833406,768003225,768003229,768003236,929654894,1403730368,1539567561,2217322130,2217322134,2217322136,2217322138,2462566457,2462566459,2462566461,2462566463,2462566465,2462566467,2462566469,2462566471,2462566473" 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/Q96HP0" 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=57572" 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=ENSG00000130158;t=ENST00000294618" 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=DOCK6" 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=DOCK6" 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+57572" 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/DOCK6" 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:57572" 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/57572" 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=chr19&hgg_gene=ENST00000294618.12&hgg_start=11199295&hgg_end=11262524&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:19189" 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/dock6" 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=614194[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=614194[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/DOCK6/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/ENSG00000130158" 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=DOCK6" 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=DOCK6" 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=DOCK6" 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=DOCK6&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/PA134913824" 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:19189" 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/FBgn0031216.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:1914789" 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/DOCK6#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:1914789" 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/57572/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=57572" 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=WBGene00018520;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-120411-11" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=DOCK6&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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614194
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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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DEDICATOR OF CYTOKINESIS 6; DOCK6
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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KIAA1395
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=DOCK6" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DOCK6</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/19/291?start=-3&limit=10&highlight=291">19p13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:11199295-11262524&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'})">19:11,199,295-11,262,524</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/19/291?start=-3&limit=10&highlight=291">
|
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19p13.2
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Adams-Oliver syndrome 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614219"> 614219 </a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/614194" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/614194" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<p>DOCK6 is a member of the conserved DOCK family of atypical guanine nucleotide exchange factors (GEFs) that lack a catalytic DBL (MCF2; <a href="/entry/311030">311030</a>) homology domain. DOCK6 belongs to subfamily C of the DOCK family and has a role in remodeling the actin cytoskeleton by functioning as a GEF for both CDC42 (<a href="/entry/116952">116952</a>) and RAC1 (<a href="/entry/602048">602048</a>) <a href="#3" class="mim-tip-reference" title="Miyamoto, Y., Yamauchi, J., Sanbe, A., Tanoue, A. <strong>Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth.</strong> Exp. Cell Res. 313: 791-804, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17196961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17196961</a>] [<a href="https://doi.org/10.1016/j.yexcr.2006.11.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17196961">Miyamoto et al. (2007)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17196961" 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 sequencing clones obtained from a size-fractionated adult brain cDNA library, <a href="#4" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 65-73, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10718198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10718198</a>] [<a href="https://doi.org/10.1093/dnares/7.1.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10718198">Nagase et al. (2000)</a> cloned DOCK6, which they designated KIAA1395. The deduced protein contains 1,628 amino acids. RT-PCR ELISA detected variable DOCK6 expression in all adult and fetal tissues and adult brain regions examined, with highest expression in ovary, lung, heart, and kidney, and lowest expression in spleen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10718198" 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 searching a database for sequences similar to DOCK180 (DOCK1; <a href="/entry/601403">601403</a>), <a href="#1" class="mim-tip-reference" title="Cote, J.-F., Vuori, K. <strong>Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.</strong> J. Cell Sci. 115: 4901-4913, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12432077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12432077</a>] [<a href="https://doi.org/10.1242/jcs.00219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12432077">Cote and Vuori (2002)</a> identified DOCK6. The deduced protein contains an N-terminal domain of over 200 amino acids and a C-terminal domain of over 500 amino acids that share significant similarity with other DOCK proteins. <a href="#1" class="mim-tip-reference" title="Cote, J.-F., Vuori, K. <strong>Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.</strong> J. Cell Sci. 115: 4901-4913, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12432077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12432077</a>] [<a href="https://doi.org/10.1242/jcs.00219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12432077">Cote and Vuori (2002)</a> called these regions DOCK homology region-1 (DHR1) and DHR2, respectively. DHR2 was predicted to function in guanine nucleotide exchange. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12432077" 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="#3" class="mim-tip-reference" title="Miyamoto, Y., Yamauchi, J., Sanbe, A., Tanoue, A. <strong>Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth.</strong> Exp. Cell Res. 313: 791-804, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17196961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17196961</a>] [<a href="https://doi.org/10.1016/j.yexcr.2006.11.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17196961">Miyamoto et al. (2007)</a> found that transfected COS-7 cells expressed epitope-tagged human DOCK6 DHR2 near the cell surface and in the perinuclear region. Western blot analysis of mouse N1E-115 neuroblastoma cells showed that full-length mouse Dock6 had an apparent molecular mass of 200 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17196961" 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 quantitative RT-PCR of adult mouse tissues, <a href="#8" class="mim-tip-reference" title="Shaheen, R., Faqeih, E., Sunker, A., Morsy, H., Al-Sheddi, T., Shamseldin, H. E., Adly, N., Hashem, M., Alkuraya, F. S. <strong>Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.</strong> Am. J. Hum. Genet. 89: 328-333, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21820096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21820096</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21820096[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.2011.07.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21820096">Shaheen et al. (2011)</a> detected highest Dock6 expression in lung and heart, with lower expression in brain, cerebellum, eye, kidney, liver, and spleen. In situ hybridization of mouse embryos showed that Dock6 was expressed in the growing edge of limb buds and in heart at embryonic day 9.5. By embryonic day 13.5, Dock6 expression was more concentrated in developing digits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21820096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Shaheen, R., Faqeih, E., Sunker, A., Morsy, H., Al-Sheddi, T., Shamseldin, H. E., Adly, N., Hashem, M., Alkuraya, F. S. <strong>Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.</strong> Am. J. Hum. Genet. 89: 328-333, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21820096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21820096</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21820096[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.2011.07.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21820096">Shaheen et al. (2011)</a> determined that the DOCK6 gene contains 48 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21820096" 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 radiation hybrid analysis, <a href="#4" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 65-73, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10718198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10718198</a>] [<a href="https://doi.org/10.1093/dnares/7.1.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10718198">Nagase et al. (2000)</a> mapped the DOCK6 gene to chromosome 19. <a href="#2" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 8/30/2011."None>Hartz (2011)</a> mapped the DOCK6 gene to chromosome 19p13.2 based on an alignment of the DOCK6 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AB037816" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AB037816</a>) with the genomic sequence (GRCh37). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10718198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using full-length human DOCK6 or the isolated DHR2 of DOCK6 expressed in E. coli, <a href="#3" class="mim-tip-reference" title="Miyamoto, Y., Yamauchi, J., Sanbe, A., Tanoue, A. <strong>Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth.</strong> Exp. Cell Res. 313: 791-804, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17196961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17196961</a>] [<a href="https://doi.org/10.1016/j.yexcr.2006.11.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17196961">Miyamoto et al. (2007)</a> showed that DOCK6 functioned as a GEF for RAC1 and CDC42, but not for RHOA (<a href="/entry/165390">165390</a>). Similar to other DOCK proteins, the isolated DHR2 of DOCK6 showed higher activity than full-length DOCK6. Transfection of COS-7 cells with human DOCK6 DHR2 increased the number of cells displaying both lamellipodia and filopodia, which are markers of Rac1 and Cdc42 activation, respectively. Dock6 mRNA and protein were induced upon differentiation in mouse N1E-115 neuroblastoma cells, concomitant with increased levels of GTP-bound Rac1 and Cdc42. Overexpression of human DOCK6 DHR2 promoted neurite outgrowth in N1E-115 cells. Conversely, knockdown of endogenous Dock6 in N1E-115 cells inhibited neurite outgrowth after induction of differentiation. <a href="#3" class="mim-tip-reference" title="Miyamoto, Y., Yamauchi, J., Sanbe, A., Tanoue, A. <strong>Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth.</strong> Exp. Cell Res. 313: 791-804, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17196961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17196961</a>] [<a href="https://doi.org/10.1016/j.yexcr.2006.11.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17196961">Miyamoto et al. (2007)</a> concluded that DOCK6 functions as a GEF for RAC1 and CDC42 and has a role in cytoskeletal remodeling and neurite outgrowth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17196961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 unrelated Arab girls with autosomal recessive Adams-Oliver syndrome-2 (AOS2; <a href="/entry/614219">614219</a>), <a href="#8" class="mim-tip-reference" title="Shaheen, R., Faqeih, E., Sunker, A., Morsy, H., Al-Sheddi, T., Shamseldin, H. E., Adly, N., Hashem, M., Alkuraya, F. S. <strong>Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.</strong> Am. J. Hum. Genet. 89: 328-333, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21820096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21820096</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21820096[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.2011.07.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21820096">Shaheen et al. (2011)</a> identified homozygosity for 2 different truncating mutations in the DOCK6 gene (<a href="#0001">614194.0001</a> and <a href="#0002">614194.0002</a>, respectively) that segregated with disease in each family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21820096" 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 individuals from 2 consanguineous Arab families with AOS who shared a region of homozygosity overlapping the DOCK6 gene, <a href="#7" class="mim-tip-reference" title="Shaheen, R., Aglan, M., Keppler-Noreuil, K., Faqeih, E., Ansari, S., Horton, K., Ashour, A., Zaki, M. S., Al-Zahrani, F., Cueto-Gonalez, A. M., Abdel-Salam, G., Temtamy, S., Alkuraya, F. S. <strong>Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams Oliver syndrome.</strong> Am. J. Hum. Genet. 92: 598-604, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23522784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23522784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23522784[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.2013.02.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23522784">Shaheen et al. (2013)</a> identified homozygous mutations in DOCK6 (<a href="/entry/614914#0003">614914.0003</a> and <a href="/entry/614914#0004">614914.0004</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23522784" 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 6-year-old girl with severely impaired intellectual development, microcephaly, and esotropia, who was born to consanguineous Iranian parents, <a href="#10" class="mim-tip-reference" title="Zaersabet, M., Koochakkhani, S., Sarmast, Y., Salmani, H. <strong>Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects.</strong> Clin. Dysmorph. 32: 84-87, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36779775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36779775</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36779775">Zaersabet et al. (2023)</a> identified homozygosity for a splice site mutation in a conserved sequence in exon 11 of the DOCK6 gene (c.1258+2T-G, NM_020812.4), predicted to result in abnormal splicing. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. It was classified as likely pathogenic by ACMG criteria. The variant was not present in population databases, including 1000 Genomes Project and ExAC. The findings in the patient were consistent with Adams-Oliver syndrome, but she did not have aplasia cutis congenita of the scalp or terminal transverse limb defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36779775" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>7 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=614194[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<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> rs730882238 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882238;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/rs730882238?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=rs730882238" 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=rs730882238" 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=RCV000024123 OR RCV000162169 OR RCV004975302" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024123, RCV000162169, RCV004975302" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024123...</a>
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<p>In an 11-month-old Arab girl with Adams-Oliver syndrome-2 (AOS2; <a href="/entry/614219">614219</a>), born of double first-cousin parents, <a href="#8" class="mim-tip-reference" title="Shaheen, R., Faqeih, E., Sunker, A., Morsy, H., Al-Sheddi, T., Shamseldin, H. E., Adly, N., Hashem, M., Alkuraya, F. S. <strong>Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.</strong> Am. J. Hum. Genet. 89: 328-333, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21820096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21820096</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21820096[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.2011.07.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21820096">Shaheen et al. (2011)</a> identified homozygosity for a 4-bp deletion (1362delAACT) in the DOCK6 gene, predicted to result in a mutant protein lacking the 2 fundamental domains, DHR1 and DHR2. Her unaffected parents were heterozygous for the mutation. Examination of cytoskeletal organization in patient fibroblasts showed that approximately 16% of cells assumed a rounded phenotype that was not observed in control cells; patient cells also assumed an unusual elongated morphology and lacked lamellipodia and lateral ruffles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21820096" 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> rs1226716539 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1226716539;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/rs1226716539?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=rs1226716539" 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=rs1226716539" 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=RCV000024124" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024124" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024124</a>
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<p>In a 3.5-year-old Arab girl with Adams-Oliver syndrome-2 (AOS2; <a href="/entry/614219">614219</a>), born of unaffected first-cousin parents, <a href="#8" class="mim-tip-reference" title="Shaheen, R., Faqeih, E., Sunker, A., Morsy, H., Al-Sheddi, T., Shamseldin, H. E., Adly, N., Hashem, M., Alkuraya, F. S. <strong>Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.</strong> Am. J. Hum. Genet. 89: 328-333, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21820096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21820096</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21820096[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.2011.07.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21820096">Shaheen et al. (2011)</a> identified homozygosity for a 1-bp duplication (1245dupT) in the DOCK6 gene, predicted to result in a mutant protein lacking the 2 fundamental domains, DHR1 and DHR2. The mutation segregated with disease in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21820096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<strong>.0003 ADAMS-OLIVER SYNDROME 2</strong>
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DOCK6, 1-BP DUP, 2520T
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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> rs397509398 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509398;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/rs397509398?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=rs397509398" 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=rs397509398" 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=RCV000049239" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000049239" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000049239</a>
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<p>In a 12-month old Arab boy with Adams-Oliver syndrome (AOS2; <a href="/entry/614219">614219</a>), who was born of first-cousin parents, <a href="#7" class="mim-tip-reference" title="Shaheen, R., Aglan, M., Keppler-Noreuil, K., Faqeih, E., Ansari, S., Horton, K., Ashour, A., Zaki, M. S., Al-Zahrani, F., Cueto-Gonalez, A. M., Abdel-Salam, G., Temtamy, S., Alkuraya, F. S. <strong>Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams Oliver syndrome.</strong> Am. J. Hum. Genet. 92: 598-604, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23522784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23522784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23522784[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.2013.02.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23522784">Shaheen et al. (2013)</a> identified homozygosity for a 1-bp duplication (c.2520dupT) in the DOCK6 gene, resulting in a frameshift and introduction of a premature termination codon (Arg841SerfsTer6). The patient's affected sister exhibited gastroschisis in addition to other features of AOS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23522784" 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 female patient (patient 10.1) with AOS who was born of consanguineous parents, <a href="#9" class="mim-tip-reference" title="Sukalo, M., Tilsen, F., Kayserili, H., Muller, D., Tuysuz, B., Ruddy, D. M., Wakeling, E., Orstavik, K. H., Bramswig, N. C., Snape, K. M., Trembath, R., De Smedt, M., van der Aa, N., Skalej, M., Mundlos, S., Wuyts, W., Southgate, L., Zenker, M. <strong>DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.</strong> Hum. Mutat. 36: 593-598, 2015. Note: Erratum: Hum. Mutat. 36: 1112 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25824905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25824905</a>] [<a href="https://doi.org/10.1002/humu.22795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25824905">Sukalo et al. (2015)</a> identified homozygosity for the c.2520dupT mutation (c.2520dupT, NM_020812.3) in exon 21 of the DOCK6 gene. In addition to the typical AOS features of scalp defect and terminal transverse limb defects, the patient exhibited microcephaly with seizures and multiple brain anomalies, including ventricular dilation with mild brain atrophy, corpus callosum hypoplasia, and periventricular calcifications. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25824905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 ADAMS-OLIVER SYNDROME 2</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">rs397509399 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509399;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=rs397509399" 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=rs397509399" 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 2-year-old girl Arab girl with Adams-Oliver syndrome (AOS2; <a href="/entry/614219">614219</a>), born of first-cousin parents, <a href="#7" class="mim-tip-reference" title="Shaheen, R., Aglan, M., Keppler-Noreuil, K., Faqeih, E., Ansari, S., Horton, K., Ashour, A., Zaki, M. S., Al-Zahrani, F., Cueto-Gonalez, A. M., Abdel-Salam, G., Temtamy, S., Alkuraya, F. S. <strong>Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams Oliver syndrome.</strong> Am. J. Hum. Genet. 92: 598-604, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23522784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23522784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23522784[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.2013.02.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23522784">Shaheen et al. (2013)</a> identified homozygosity for a c.4107-1G-C transversion at the splice acceptor site in intron 32 of the DOCK6 gene. RT-PCR confirmed that the mutation replaces the consensus acceptor site by a cryptic site in the downstream exon (exon 33), leading to the loss of 7 bp from exon 33 and causing a frameshift that results in a premature termination codon (Thr1370MetfsTer19). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23522784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 ADAMS-OLIVER SYNDROME 2</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">rs879255610 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255610;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=rs879255610" 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=rs879255610" 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=RCV000239532" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239532" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239532</a>
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<p>In a sister and brother (family 6) with Adams-Oliver syndrome-2 (AOS2; <a href="/entry/614219">614219</a>), originally described by <a href="#5" class="mim-tip-reference" title="Orstavik, K. H., Stromme, P., Spetalen, S., Flage, T., Westvik, J., Vesterhus, P., Skjeldal, O. <strong>Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?</strong> Am. J. Med. Genet. 59: 92-95, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8849019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8849019</a>] [<a href="https://doi.org/10.1002/ajmg.1320590118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8849019">Orstavik et al. (1995)</a>, <a href="#9" class="mim-tip-reference" title="Sukalo, M., Tilsen, F., Kayserili, H., Muller, D., Tuysuz, B., Ruddy, D. M., Wakeling, E., Orstavik, K. H., Bramswig, N. C., Snape, K. M., Trembath, R., De Smedt, M., van der Aa, N., Skalej, M., Mundlos, S., Wuyts, W., Southgate, L., Zenker, M. <strong>DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.</strong> Hum. Mutat. 36: 593-598, 2015. Note: Erratum: Hum. Mutat. 36: 1112 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25824905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25824905</a>] [<a href="https://doi.org/10.1002/humu.22795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25824905">Sukalo et al. (2015)</a> identified compound heterozygosity for 2 mutations in the DOCK6 gene: a c.788T-A transversion (c.788T-A, NM_020812.3) in exon 7, resulting in a val263-to-asp (V263D) substitution at a conserved residue within the DHR-1 domain, and a splice site mutation (c.5939+2T-C; <a href="#0006">614194.0006</a>) in intron 46. The missense mutation was inherited from their unaffected father, and the splice site mutation from their unaffected mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8849019+25824905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 ADAMS-OLIVER SYNDROME 2</strong>
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DOCK6, IVS46, T-C, +2 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201387914;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs201387914</a>)
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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> rs201387914 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201387914;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/rs201387914?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=rs201387914" 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=rs201387914" 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=RCV000239583 OR RCV001242778 OR RCV002518540 OR RCV004751400" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239583, RCV001242778, RCV002518540, RCV004751400" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239583...</a>
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<p>For discussion of the c.5939+2T-C transition (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201387914;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs201387914</a>) in intron 46 of the DOCK6 gene that was found in compound heterozygous state in a sister and brother with Adam-Oliver syndrome-2 (AOS2; <a href="/entry/614219">614219</a>) by <a href="#9" class="mim-tip-reference" title="Sukalo, M., Tilsen, F., Kayserili, H., Muller, D., Tuysuz, B., Ruddy, D. M., Wakeling, E., Orstavik, K. H., Bramswig, N. C., Snape, K. M., Trembath, R., De Smedt, M., van der Aa, N., Skalej, M., Mundlos, S., Wuyts, W., Southgate, L., Zenker, M. <strong>DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.</strong> Hum. Mutat. 36: 593-598, 2015. Note: Erratum: Hum. Mutat. 36: 1112 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25824905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25824905</a>] [<a href="https://doi.org/10.1002/humu.22795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25824905">Sukalo et al. (2015)</a>, see <a href="#0005">614194.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25824905" 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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DOCK6, GLU1052LYS
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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> rs774877657 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs774877657;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/rs774877657?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=rs774877657" 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=rs774877657" 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=RCV000239496 OR RCV003409369" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239496, RCV003409369" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239496...</a>
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<p>In a 9-year-old Afghan boy (patient 5.1) with Adams-Oliver syndrome-2 (AOS2; <a href="/entry/614219">614219</a>), originally reported by <a href="#6" class="mim-tip-reference" title="Prothero, J., Nicholl, R., Wilson, J., Wakeling, E. L. <strong>Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption.</strong> Clin. Dysmorph. 16: 39-41, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17159513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17159513</a>] [<a href="https://doi.org/10.1097/MCD.0b013e328010b81c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17159513">Prothero et al. (2007)</a>, <a href="#9" class="mim-tip-reference" title="Sukalo, M., Tilsen, F., Kayserili, H., Muller, D., Tuysuz, B., Ruddy, D. M., Wakeling, E., Orstavik, K. H., Bramswig, N. C., Snape, K. M., Trembath, R., De Smedt, M., van der Aa, N., Skalej, M., Mundlos, S., Wuyts, W., Southgate, L., Zenker, M. <strong>DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.</strong> Hum. Mutat. 36: 593-598, 2015. Note: Erratum: Hum. Mutat. 36: 1112 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25824905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25824905</a>] [<a href="https://doi.org/10.1002/humu.22795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25824905">Sukalo et al. (2015)</a> identified homozygosity for a c.3154G-A transition (c.3154G-A, NM_020812.3) in exon 26 of the DOCK6 gene, resulting in a glu1052-to-lys (E1052K) substitution at a conserved residue in the DHR-1 domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17159513+25824905" 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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Cote, J.-F., Vuori, K.
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<strong>Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.</strong>
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J. Cell Sci. 115: 4901-4913, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12432077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12432077</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12432077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1242/jcs.00219" target="_blank">Full Text</a>]
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 8/30/2011.
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Miyamoto, Y., Yamauchi, J., Sanbe, A., Tanoue, A.
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<strong>Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth.</strong>
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Exp. Cell Res. 313: 791-804, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17196961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17196961</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17196961" 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.yexcr.2006.11.017" target="_blank">Full Text</a>]
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Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 7: 65-73, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10718198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10718198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10718198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Orstavik, K. H., Stromme, P., Spetalen, S., Flage, T., Westvik, J., Vesterhus, P., Skjeldal, O.
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<strong>Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?</strong>
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Am. J. Med. Genet. 59: 92-95, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8849019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8849019</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8849019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Prothero, J., Nicholl, R., Wilson, J., Wakeling, E. L.
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<strong>Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption.</strong>
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Clin. Dysmorph. 16: 39-41, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17159513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17159513</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17159513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Shaheen2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shaheen, R., Aglan, M., Keppler-Noreuil, K., Faqeih, E., Ansari, S., Horton, K., Ashour, A., Zaki, M. S., Al-Zahrani, F., Cueto-Gonalez, A. M., Abdel-Salam, G., Temtamy, S., Alkuraya, F. S.
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<strong>Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams Oliver syndrome.</strong>
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Am. J. Hum. Genet. 92: 598-604, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23522784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23522784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23522784[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=23522784" 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.2013.02.012" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Shaheen2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shaheen, R., Faqeih, E., Sunker, A., Morsy, H., Al-Sheddi, T., Shamseldin, H. E., Adly, N., Hashem, M., Alkuraya, F. S.
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<strong>Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.</strong>
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Am. J. Hum. Genet. 89: 328-333, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21820096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21820096</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21820096[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=21820096" 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.2011.07.009" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Sukalo2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sukalo, M., Tilsen, F., Kayserili, H., Muller, D., Tuysuz, B., Ruddy, D. M., Wakeling, E., Orstavik, K. H., Bramswig, N. C., Snape, K. M., Trembath, R., De Smedt, M., van der Aa, N., Skalej, M., Mundlos, S., Wuyts, W., Southgate, L., Zenker, M.
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<strong>DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.</strong>
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Hum. Mutat. 36: 593-598, 2015. Note: Erratum: Hum. Mutat. 36: 1112 only, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25824905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25824905</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25824905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22795" 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="10" class="mim-anchor"></a>
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<a id="Zaersabet2023" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zaersabet, M., Koochakkhani, S., Sarmast, Y., Salmani, H.
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<strong>Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects.</strong>
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Clin. Dysmorph. 32: 84-87, 2023.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36779775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36779775</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36779775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/MCD.0000000000000450" target="_blank">Full Text</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 : 11/01/2023
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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 : 01/27/2016<br>Marla J. F. O'Neill - updated : 7/2/2013<br>Marla J. F. O'Neill - updated : 9/9/2011
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 8/30/2011
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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 : 11/02/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/01/2023<br>carol : 11/26/2018<br>alopez : 08/11/2016<br>carol : 01/27/2016<br>carol : 7/2/2013<br>carol : 2/23/2012<br>carol : 9/9/2011<br>terry : 9/9/2011<br>mgross : 8/30/2011
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<span class="mim-font">
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<strong>*</strong> 614194
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<h3>
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<span class="mim-font">
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DEDICATOR OF CYTOKINESIS 6; DOCK6
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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KIAA1395
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DOCK6</em></strong>
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</span>
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<strong>
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<em>
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Cytogenetic location: 19p13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 19:11,199,295-11,262,524 </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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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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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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Phenotype <br /> mapping key
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<td rowspan="1">
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<span class="mim-font">
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19p13.2
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<td>
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<span class="mim-font">
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Adams-Oliver syndrome 2
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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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614219
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<td>
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<span class="mim-font">
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Autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>DOCK6 is a member of the conserved DOCK family of atypical guanine nucleotide exchange factors (GEFs) that lack a catalytic DBL (MCF2; 311030) homology domain. DOCK6 belongs to subfamily C of the DOCK family and has a role in remodeling the actin cytoskeleton by functioning as a GEF for both CDC42 (116952) and RAC1 (602048) Miyamoto et al. (2007). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</h4>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated adult brain cDNA library, Nagase et al. (2000) cloned DOCK6, which they designated KIAA1395. The deduced protein contains 1,628 amino acids. RT-PCR ELISA detected variable DOCK6 expression in all adult and fetal tissues and adult brain regions examined, with highest expression in ovary, lung, heart, and kidney, and lowest expression in spleen. </p><p>By searching a database for sequences similar to DOCK180 (DOCK1; 601403), Cote and Vuori (2002) identified DOCK6. The deduced protein contains an N-terminal domain of over 200 amino acids and a C-terminal domain of over 500 amino acids that share significant similarity with other DOCK proteins. Cote and Vuori (2002) called these regions DOCK homology region-1 (DHR1) and DHR2, respectively. DHR2 was predicted to function in guanine nucleotide exchange. </p><p>Miyamoto et al. (2007) found that transfected COS-7 cells expressed epitope-tagged human DOCK6 DHR2 near the cell surface and in the perinuclear region. Western blot analysis of mouse N1E-115 neuroblastoma cells showed that full-length mouse Dock6 had an apparent molecular mass of 200 kD. </p><p>By quantitative RT-PCR of adult mouse tissues, Shaheen et al. (2011) detected highest Dock6 expression in lung and heart, with lower expression in brain, cerebellum, eye, kidney, liver, and spleen. In situ hybridization of mouse embryos showed that Dock6 was expressed in the growing edge of limb buds and in heart at embryonic day 9.5. By embryonic day 13.5, Dock6 expression was more concentrated in developing digits. </p>
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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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</div>
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<span class="mim-text-font">
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<p>Shaheen et al. (2011) determined that the DOCK6 gene contains 48 exons. </p>
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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 radiation hybrid analysis, Nagase et al. (2000) mapped the DOCK6 gene to chromosome 19. Hartz (2011) mapped the DOCK6 gene to chromosome 19p13.2 based on an alignment of the DOCK6 sequence (GenBank AB037816) 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>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using full-length human DOCK6 or the isolated DHR2 of DOCK6 expressed in E. coli, Miyamoto et al. (2007) showed that DOCK6 functioned as a GEF for RAC1 and CDC42, but not for RHOA (165390). Similar to other DOCK proteins, the isolated DHR2 of DOCK6 showed higher activity than full-length DOCK6. Transfection of COS-7 cells with human DOCK6 DHR2 increased the number of cells displaying both lamellipodia and filopodia, which are markers of Rac1 and Cdc42 activation, respectively. Dock6 mRNA and protein were induced upon differentiation in mouse N1E-115 neuroblastoma cells, concomitant with increased levels of GTP-bound Rac1 and Cdc42. Overexpression of human DOCK6 DHR2 promoted neurite outgrowth in N1E-115 cells. Conversely, knockdown of endogenous Dock6 in N1E-115 cells inhibited neurite outgrowth after induction of differentiation. Miyamoto et al. (2007) concluded that DOCK6 functions as a GEF for RAC1 and CDC42 and has a role in cytoskeletal remodeling and neurite outgrowth. </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>In 2 unrelated Arab girls with autosomal recessive Adams-Oliver syndrome-2 (AOS2; 614219), Shaheen et al. (2011) identified homozygosity for 2 different truncating mutations in the DOCK6 gene (614194.0001 and 614194.0002, respectively) that segregated with disease in each family. </p><p>In affected individuals from 2 consanguineous Arab families with AOS who shared a region of homozygosity overlapping the DOCK6 gene, Shaheen et al. (2013) identified homozygous mutations in DOCK6 (614914.0003 and 614914.0004, respectively). </p><p>In a 6-year-old girl with severely impaired intellectual development, microcephaly, and esotropia, who was born to consanguineous Iranian parents, Zaersabet et al. (2023) identified homozygosity for a splice site mutation in a conserved sequence in exon 11 of the DOCK6 gene (c.1258+2T-G, NM_020812.4), predicted to result in abnormal splicing. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. It was classified as likely pathogenic by ACMG criteria. The variant was not present in population databases, including 1000 Genomes Project and ExAC. The findings in the patient were consistent with Adams-Oliver syndrome, but she did not have aplasia cutis congenita of the scalp or terminal transverse limb defects. </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>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 ADAMS-OLIVER SYNDROME 2</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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DOCK6, 4-BP DEL, 1362AACT
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<br />
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SNP: rs730882238,
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gnomAD: rs730882238,
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ClinVar: RCV000024123, RCV000162169, RCV004975302
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an 11-month-old Arab girl with Adams-Oliver syndrome-2 (AOS2; 614219), born of double first-cousin parents, Shaheen et al. (2011) identified homozygosity for a 4-bp deletion (1362delAACT) in the DOCK6 gene, predicted to result in a mutant protein lacking the 2 fundamental domains, DHR1 and DHR2. Her unaffected parents were heterozygous for the mutation. Examination of cytoskeletal organization in patient fibroblasts showed that approximately 16% of cells assumed a rounded phenotype that was not observed in control cells; patient cells also assumed an unusual elongated morphology and lacked lamellipodia and lateral ruffles. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 ADAMS-OLIVER SYNDROME 2</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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DOCK6, 1-BP DUP, 1245T
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<br />
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SNP: rs1226716539,
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gnomAD: rs1226716539,
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ClinVar: RCV000024124
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 3.5-year-old Arab girl with Adams-Oliver syndrome-2 (AOS2; 614219), born of unaffected first-cousin parents, Shaheen et al. (2011) identified homozygosity for a 1-bp duplication (1245dupT) in the DOCK6 gene, predicted to result in a mutant protein lacking the 2 fundamental domains, DHR1 and DHR2. The mutation segregated with disease in the family. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 ADAMS-OLIVER SYNDROME 2</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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DOCK6, 1-BP DUP, 2520T
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<br />
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SNP: rs397509398,
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gnomAD: rs397509398,
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ClinVar: RCV000049239
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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 12-month old Arab boy with Adams-Oliver syndrome (AOS2; 614219), who was born of first-cousin parents, Shaheen et al. (2013) identified homozygosity for a 1-bp duplication (c.2520dupT) in the DOCK6 gene, resulting in a frameshift and introduction of a premature termination codon (Arg841SerfsTer6). The patient's affected sister exhibited gastroschisis in addition to other features of AOS. </p><p>In a female patient (patient 10.1) with AOS who was born of consanguineous parents, Sukalo et al. (2015) identified homozygosity for the c.2520dupT mutation (c.2520dupT, NM_020812.3) in exon 21 of the DOCK6 gene. In addition to the typical AOS features of scalp defect and terminal transverse limb defects, the patient exhibited microcephaly with seizures and multiple brain anomalies, including ventricular dilation with mild brain atrophy, corpus callosum hypoplasia, and periventricular calcifications. </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>.0004 ADAMS-OLIVER SYNDROME 2</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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DOCK6, IVS32AS, G-C, -1
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<br />
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SNP: rs397509399,
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|
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ClinVar: RCV000049240
|
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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 2-year-old girl Arab girl with Adams-Oliver syndrome (AOS2; 614219), born of first-cousin parents, Shaheen et al. (2013) identified homozygosity for a c.4107-1G-C transversion at the splice acceptor site in intron 32 of the DOCK6 gene. RT-PCR confirmed that the mutation replaces the consensus acceptor site by a cryptic site in the downstream exon (exon 33), leading to the loss of 7 bp from exon 33 and causing a frameshift that results in a premature termination codon (Thr1370MetfsTer19). </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>
|
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<span class="mim-font">
|
|
<strong>.0005 ADAMS-OLIVER SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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|
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DOCK6, VAL263ASP
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<br />
|
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|
|
SNP: rs879255610,
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|
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|
|
|
ClinVar: RCV000239532
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a sister and brother (family 6) with Adams-Oliver syndrome-2 (AOS2; 614219), originally described by Orstavik et al. (1995), Sukalo et al. (2015) identified compound heterozygosity for 2 mutations in the DOCK6 gene: a c.788T-A transversion (c.788T-A, NM_020812.3) in exon 7, resulting in a val263-to-asp (V263D) substitution at a conserved residue within the DHR-1 domain, and a splice site mutation (c.5939+2T-C; 614194.0006) in intron 46. The missense mutation was inherited from their unaffected father, and the splice site mutation from their unaffected mother. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 ADAMS-OLIVER SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DOCK6, IVS46, T-C, +2 ({dbSNP rs201387914})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs201387914,
|
|
|
|
|
|
gnomAD: rs201387914,
|
|
|
|
|
|
ClinVar: RCV000239583, RCV001242778, RCV002518540, RCV004751400
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.5939+2T-C transition (rs201387914) in intron 46 of the DOCK6 gene that was found in compound heterozygous state in a sister and brother with Adam-Oliver syndrome-2 (AOS2; 614219) by Sukalo et al. (2015), see 614194.0005. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 ADAMS-OLIVER SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DOCK6, GLU1052LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs774877657,
|
|
|
|
|
|
gnomAD: rs774877657,
|
|
|
|
|
|
ClinVar: RCV000239496, RCV003409369
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old Afghan boy (patient 5.1) with Adams-Oliver syndrome-2 (AOS2; 614219), originally reported by Prothero et al. (2007), Sukalo et al. (2015) identified homozygosity for a c.3154G-A transition (c.3154G-A, NM_020812.3) in exon 26 of the DOCK6 gene, resulting in a glu1052-to-lys (E1052K) substitution at a conserved residue in the DHR-1 domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cote, J.-F., Vuori, K.
|
|
<strong>Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.</strong>
|
|
J. Cell Sci. 115: 4901-4913, 2002.
|
|
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|
|
|
[PubMed: 12432077]
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[Full Text: https://doi.org/10.1242/jcs.00219]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 8/30/2011.
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Miyamoto, Y., Yamauchi, J., Sanbe, A., Tanoue, A.
|
|
<strong>Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth.</strong>
|
|
Exp. Cell Res. 313: 791-804, 2007.
|
|
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|
|
[PubMed: 17196961]
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[Full Text: https://doi.org/10.1016/j.yexcr.2006.11.017]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 7: 65-73, 2000.
|
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|
|
[PubMed: 10718198]
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[Full Text: https://doi.org/10.1093/dnares/7.1.65]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Orstavik, K. H., Stromme, P., Spetalen, S., Flage, T., Westvik, J., Vesterhus, P., Skjeldal, O.
|
|
<strong>Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?</strong>
|
|
Am. J. Med. Genet. 59: 92-95, 1995.
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[PubMed: 8849019]
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[Full Text: https://doi.org/10.1002/ajmg.1320590118]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Prothero, J., Nicholl, R., Wilson, J., Wakeling, E. L.
|
|
<strong>Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption.</strong>
|
|
Clin. Dysmorph. 16: 39-41, 2007.
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[PubMed: 17159513]
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[Full Text: https://doi.org/10.1097/MCD.0b013e328010b81c]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Shaheen, R., Aglan, M., Keppler-Noreuil, K., Faqeih, E., Ansari, S., Horton, K., Ashour, A., Zaki, M. S., Al-Zahrani, F., Cueto-Gonalez, A. M., Abdel-Salam, G., Temtamy, S., Alkuraya, F. S.
|
|
<strong>Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams Oliver syndrome.</strong>
|
|
Am. J. Hum. Genet. 92: 598-604, 2013.
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|
[PubMed: 23522784]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.02.012]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Shaheen, R., Faqeih, E., Sunker, A., Morsy, H., Al-Sheddi, T., Shamseldin, H. E., Adly, N., Hashem, M., Alkuraya, F. S.
|
|
<strong>Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.</strong>
|
|
Am. J. Hum. Genet. 89: 328-333, 2011.
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|
[PubMed: 21820096]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.07.009]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Sukalo, M., Tilsen, F., Kayserili, H., Muller, D., Tuysuz, B., Ruddy, D. M., Wakeling, E., Orstavik, K. H., Bramswig, N. C., Snape, K. M., Trembath, R., De Smedt, M., van der Aa, N., Skalej, M., Mundlos, S., Wuyts, W., Southgate, L., Zenker, M.
|
|
<strong>DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.</strong>
|
|
Hum. Mutat. 36: 593-598, 2015. Note: Erratum: Hum. Mutat. 36: 1112 only, 2015.
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[PubMed: 25824905]
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[Full Text: https://doi.org/10.1002/humu.22795]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Zaersabet, M., Koochakkhani, S., Sarmast, Y., Salmani, H.
|
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<strong>Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects.</strong>
|
|
Clin. Dysmorph. 32: 84-87, 2023.
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|
|
[PubMed: 36779775]
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[Full Text: https://doi.org/10.1097/MCD.0000000000000450]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Sonja A. Rasmussen - updated : 11/01/2023<br>Marla J. F. O'Neill - updated : 01/27/2016<br>Marla J. F. O'Neill - updated : 7/2/2013<br>Marla J. F. O'Neill - updated : 9/9/2011
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Patricia A. Hartz : 8/30/2011
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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carol : 11/02/2023<br>carol : 11/01/2023<br>carol : 11/26/2018<br>alopez : 08/11/2016<br>carol : 01/27/2016<br>carol : 7/2/2013<br>carol : 2/23/2012<br>carol : 9/9/2011<br>terry : 9/9/2011<br>mgross : 8/30/2011
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