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Entry
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- #604356 - DUANE RETRACTION SYNDROME 2; DURS2
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- OMIM
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<p>
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<span class="h4">#604356</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/604356"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS126800"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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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=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=DUANE RETRACTION SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1039&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1190/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/2335" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604356[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><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=233" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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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 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://wormbase.org/resources/disease/DOID:0061028" 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': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></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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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 233<br />
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<strong>DO:</strong> 0061028<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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604356
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</span>
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</span>
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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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DUANE RETRACTION SYNDROME 2; DURS2
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed 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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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/2/792?start=-3&limit=10&highlight=792">
|
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2q31.1
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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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Duane retraction 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/604356"> 604356 </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 dominant">AD</abbr>
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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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</td>
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<td>
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<span class="mim-font">
|
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CHN1
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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/118423"> 118423 </a>
|
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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 class="btn-group ">
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<a href="/clinicalSynopsis/604356" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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<a href="/phenotypicSeries/PS126800" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/604356" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/604356" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</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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<p />
|
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</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
|
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|
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> HEAD & NECK </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<em> Eyes </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
|
|
Impaired ocular abduction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846462&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846462</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000634</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000634</a>]</span><br /> -
|
|
Impaired ocular adduction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846463&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846463</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000542" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000542</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000542" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000542</a>]</span><br /> -
|
|
Globe retraction on adduction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393523&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393523</a>]</span><br /> -
|
|
Palpebral fissure narrowing on adduction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846465</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000661" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000661</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000661" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000661</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
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|
|
</div>
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|
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</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small/absent abducens nerves <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393521&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393521</a>]</span><br /> -
|
|
Small oculomotor nerves <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393522&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393522</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
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|
|
</div>
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|
|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Reduced penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br /> -
|
|
Clinical variability (unilateral vs bilateral DRS)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in chimerin 1 gene (CHN1, <a href="/entry/118423#0001">118423.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Duane retraction syndrome
|
|
- <a href="/phenotypicSeries/PS126800">PS126800</a>
|
|
- 3 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/792?start=-3&limit=10&highlight=792"> 2q31.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604356"> Duane retraction syndrome 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604356"> 604356 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118423"> CHN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118423"> 118423 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/306?start=-3&limit=10&highlight=306"> 8q13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/126800"> Duane retraction syndrome 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/126800"> 126800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/126800"> DURS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/126800"> 126800 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/289?start=-3&limit=10&highlight=289"> 20q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617041"> Duane retraction syndrome 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617041"> 617041 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608968"> MAFB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608968"> 608968 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
|
|
|
</div>
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
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<p>A number sign (#) is used with this entry because of evidence that Duane retraction syndrome-2 (DURS2) is caused by heterozygous mutation in the CHN1 gene (<a href="/entry/118423">118423</a>) on chromosome 2q31.</p>
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<p>Duane retraction syndrome (DURS) is a congenital disorder characterized by restricted horizontal eye movement with globe retraction and palpebral fissure narrowing on attempted adduction. DURS is observed in approximately 0.1% of the general population, accounts for 1 to 5% of all strabismus, and if untreated in childhood can result in loss of binocular vision and amblyopia. Postmortem examinations of individuals with sporadic DURS have shown absence of the abducens motor neurons and abducens cranial nerve on the affected side(s), and aberrant innervation of the lateral rectus by axons of the oculomotor nerve that normally innervate the medial rectus muscle. Most patients are affected unilaterally and have no family history of the disorder (summary by <a href="#7" class="mim-tip-reference" title="Miyake, N., Andrews, C., Fan, W., He, W., Chan, W.-M., Engle, E. C. <strong>CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. (Letter)</strong> Am. J. Med. Genet. 152A: 215-217, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20034095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20034095</a>] [<a href="https://doi.org/10.1002/ajmg.a.33168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20034095">Miyake et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20034095" 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>For a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 (<a href="/entry/126800">126800</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Appukuttan, B., Gillanders, E., Juo, S.-H., Freas-Lutz, D., Ott, S., Sood, R., Van Auken, A., Bailey-Wilson, J., Wang, X., Patel, R. J., Robbins, C. M., Chung, M., Annett, G., Weinberg, K., Borchert, M. S., Trent, J. M., Brownstein, M. J., Stout, J. T. <strong>Localization of a gene for Duane retraction syndrome to chromosome 2q31.</strong> Am. J. Hum. Genet. 65: 1639-1646, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10577917[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/10.1086/302656" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10577917">Appukuttan et al. (1999)</a> reported a large 4-generation Mexican family in which 25 living members were affected with Duane anomaly transmitted in an autosomal dominant pattern. <a href="#3" class="mim-tip-reference" title="Chung, M., Stout, J. T., Borchert, M. S. <strong>Clinical diversity of hereditary Duane's retraction syndrome.</strong> Ophthalmology 107: 500-503, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10711888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10711888</a>] [<a href="https://doi.org/10.1016/s0161-6420(99)00090-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10711888">Chung et al. (2000)</a> studied 110 of the family members and examined the 25 patients in detail. None of the unaffected family members had evidence of neurologic abnormalities. All but 1 of the 25 patients had bilateral Duane anomaly of type 1 or type 3, and there was a high prevalence of manifest strabismus (76%) and amblyopia (48%). In 1 family subgroup, 3 patients had a unilateral fourth cranial nerve palsy. Other ophthalmic and neurologic abnormalities included unilateral congenital ptosis, upper eyelid retraction with downgaze, unilateral congenital deafness, nystagmus, and seizures, each observed in 1 patient. None of the patients had visible external ear or facial anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10711888+10577917" 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="#6" class="mim-tip-reference" title="Evans, J. C., Frayling, T. M., Ellard, S., Gutowski, N. J. <strong>Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.</strong> Hum. Genet. 106: 636-638, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942112</a>] [<a href="https://doi.org/10.1007/s004390000311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942112">Evans et al. (2000)</a> described a 4-generation family in the United Kingdom with autosomal dominant transmission of isolated bilateral Duane syndrome. Of 9 affected family members, 5 cases were type 1 bilaterally, 2 cases were type 3 bilaterally, and 2 cases were type 1 in the right eye and type 3 in the left eye. Eight cases had a primary position esotropia, and there was a vertical eye movement abnormality in 8 cases, 5 with a 'V' configuration and 3 with an 'A' configuration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10942112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Demer, J. L., Clark, R. A., Lim, K.-H., Engle, E. C. <strong>Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus.</strong> Invest. Ophthal. Vis. Sci. 48: 194-202, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17197533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17197533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17197533[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/10.1167/iovs.06-0632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17197533">Demer et al. (2007)</a> used high-resolution, multipositional MRI in a study of 5 male and 3 female affected members of 2 families with autosomal dominant Duane retraction syndrome mapping to chromosome 2. All patients had unilateral or bilateral limitation of abduction, or of both abduction and adduction, with palpebral fissure narrowing and globe retraction in adduction. Orbital motor nerves were typically small, with the abducens nerve (cranial nerve 6; CN6) often nondetectable. Lateral rectus muscles were structurally abnormal in 7 patients, with structural and motility evidence of oculomotor nerve (CN3) innervation from vertical rectus extraocular muscles (EOM) leading to A or V patterns of strabismus in 3 cases. Four cases had superior oblique, 2 cases superior rectus, and 2 cases levator EOM hypoplasia. Only the medial and inferior rectus and inferior oblique EOMs were spared. Two cases had small CN3s. <a href="#4" class="mim-tip-reference" title="Demer, J. L., Clark, R. A., Lim, K.-H., Engle, E. C. <strong>Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus.</strong> Invest. Ophthal. Vis. Sci. 48: 194-202, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17197533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17197533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17197533[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/10.1167/iovs.06-0632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17197533">Demer et al. (2007)</a> concluded that DURS2 is a diffuse congenital cranial dysinnervation disorder involving but not limited to CN6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17197533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Miyake, N., Demer, J. L., Shaaban, S., Andrews, C., Chan, W.-M., Christiansen, S. P., Hunter, D. G., Engle, E. C. <strong>Expansion of the CHN1 strabismus phenotype.</strong> Invest. Ophthal. Vis. Sci. 52: 6321-8328, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21715346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21715346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21715346[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/10.1167/iovs.11-7950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21715346">Miyake et al. (2011)</a> reported 5 family members with distinctive ocular dysmotility patterns that cosegregated with a novel hyperactivating CHN1 mutation. All 5 clinically affected family members exhibited monocular or binocular supraduction deficits, 3 in the absence of DURS2. MRI in 4 affected individuals demonstrated small or absent abducens nerves in all 4, small oculomotor nerve in 1, and small optic nerves in 3. Superior oblique muscle volume was also decreased in 3 of the individuals, supporting trochlear nerve hypoplasia. <a href="#9" class="mim-tip-reference" title="Miyake, N., Demer, J. L., Shaaban, S., Andrews, C., Chan, W.-M., Christiansen, S. P., Hunter, D. G., Engle, E. C. <strong>Expansion of the CHN1 strabismus phenotype.</strong> Invest. Ophthal. Vis. Sci. 52: 6321-8328, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21715346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21715346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21715346[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/10.1167/iovs.11-7950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21715346">Miyake et al. (2011)</a> concluded that their analysis of this pedigree expanded the phenotypic spectrum of hyperactivating CHN1 mutations to include vertical strabismus and supraduction deficits in the absence of Duane retraction syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21715346" 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>The transmission pattern of DURS2 in the family reported by <a href="#1" class="mim-tip-reference" title="Appukuttan, B., Gillanders, E., Juo, S.-H., Freas-Lutz, D., Ott, S., Sood, R., Van Auken, A., Bailey-Wilson, J., Wang, X., Patel, R. J., Robbins, C. M., Chung, M., Annett, G., Weinberg, K., Borchert, M. S., Trent, J. M., Brownstein, M. J., Stout, J. T. <strong>Localization of a gene for Duane retraction syndrome to chromosome 2q31.</strong> Am. J. Hum. Genet. 65: 1639-1646, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10577917[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/10.1086/302656" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10577917">Appukuttan et al. (1999)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10577917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a large 4-generation Mexican family with autosomal dominant Duane retraction syndrome, <a href="#1" class="mim-tip-reference" title="Appukuttan, B., Gillanders, E., Juo, S.-H., Freas-Lutz, D., Ott, S., Sood, R., Van Auken, A., Bailey-Wilson, J., Wang, X., Patel, R. J., Robbins, C. M., Chung, M., Annett, G., Weinberg, K., Borchert, M. S., Trent, J. M., Brownstein, M. J., Stout, J. T. <strong>Localization of a gene for Duane retraction syndrome to chromosome 2q31.</strong> Am. J. Hum. Genet. 65: 1639-1646, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10577917[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/10.1086/302656" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10577917">Appukuttan et al. (1999)</a> demonstrated linkage to 2q31 (maximum lod score = 11.73 at theta = 0.0 for D2S2314). Haplotype analysis placed the affected gene in a 17.8-cM region. No recombinants were seen with markers between these 2 loci. The linked region contains the homeobox D gene cluster (see HOXD1; <a href="/entry/142987">142987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10577917" 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 4-generation family with Duane syndrome in the U.K., <a href="#6" class="mim-tip-reference" title="Evans, J. C., Frayling, T. M., Ellard, S., Gutowski, N. J. <strong>Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.</strong> Hum. Genet. 106: 636-638, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942112</a>] [<a href="https://doi.org/10.1007/s004390000311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942112">Evans et al. (2000)</a> demonstrated linkage to an interval of 8.8-cM on 2q31. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10942112" 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 2 additional families with Duane retraction syndrome, one Hispanic and the other Caucasian, <a href="#5" class="mim-tip-reference" title="Engle, E. C., Andrews, C., Law, K., Demer, J. L. <strong>Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.</strong> Invest. Ophthal. Vis. Sci. 48: 189-193, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17197532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17197532</a>] [<a href="https://doi.org/10.1167/iovs.06-0631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17197532">Engle et al. (2007)</a> demonstrated linkage of the disorder within the same 8.8-cM interval, with maximum lod scores of 2.1 and 2.3 at D2S2314, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17197532" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others. <strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong> Science 321: 839-843, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18653847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18653847</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18653847[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/10.1126/science.1156121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18653847">Miyake et al. (2008)</a> further analyzed the recombination events that defined the DURS2 critical region (<a href="#1" class="mim-tip-reference" title="Appukuttan, B., Gillanders, E., Juo, S.-H., Freas-Lutz, D., Ott, S., Sood, R., Van Auken, A., Bailey-Wilson, J., Wang, X., Patel, R. J., Robbins, C. M., Chung, M., Annett, G., Weinberg, K., Borchert, M. S., Trent, J. M., Brownstein, M. J., Stout, J. T. <strong>Localization of a gene for Duane retraction syndrome to chromosome 2q31.</strong> Am. J. Hum. Genet. 65: 1639-1646, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10577917[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/10.1086/302656" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10577917">Appukuttan et al., 1999</a>; <a href="#6" class="mim-tip-reference" title="Evans, J. C., Frayling, T. M., Ellard, S., Gutowski, N. J. <strong>Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.</strong> Hum. Genet. 106: 636-638, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942112</a>] [<a href="https://doi.org/10.1007/s004390000311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942112">Evans et al., 2000</a>), reducing it from 9.9 to 4.6 Mb. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10942112+18653847+10577917" 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 4 large families with Duane retraction syndrome mapping to chromosome 2q, previously reported by <a href="#1" class="mim-tip-reference" title="Appukuttan, B., Gillanders, E., Juo, S.-H., Freas-Lutz, D., Ott, S., Sood, R., Van Auken, A., Bailey-Wilson, J., Wang, X., Patel, R. J., Robbins, C. M., Chung, M., Annett, G., Weinberg, K., Borchert, M. S., Trent, J. M., Brownstein, M. J., Stout, J. T. <strong>Localization of a gene for Duane retraction syndrome to chromosome 2q31.</strong> Am. J. Hum. Genet. 65: 1639-1646, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10577917[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/10.1086/302656" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10577917">Appukuttan et al. (1999)</a>, <a href="#6" class="mim-tip-reference" title="Evans, J. C., Frayling, T. M., Ellard, S., Gutowski, N. J. <strong>Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.</strong> Hum. Genet. 106: 636-638, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942112</a>] [<a href="https://doi.org/10.1007/s004390000311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942112">Evans et al. (2000)</a>, and <a href="#5" class="mim-tip-reference" title="Engle, E. C., Andrews, C., Law, K., Demer, J. L. <strong>Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.</strong> Invest. Ophthal. Vis. Sci. 48: 189-193, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17197532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17197532</a>] [<a href="https://doi.org/10.1167/iovs.06-0631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17197532">Engle et al. (2007)</a>, <a href="#8" class="mim-tip-reference" title="Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others. <strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong> Science 321: 839-843, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18653847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18653847</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18653847[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/10.1126/science.1156121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18653847">Miyake et al. (2008)</a> screened 22 candidate genes and identified heterozygous missense changes in the CHN1 gene (<a href="/entry/118423#0001">118423.0001</a>-<a href="/entry/118423#0004">118423.0004</a>), which encodes 2 Rac-specific guanosine triphosphatase (GTPase)-activating alpha-chimerin isoforms. Analysis of CHN1 in 16 smaller DURS pedigrees revealed heterozygous mutations in 3 additional families (<a href="/entry/118423#0004">118423.0004</a>-<a href="/entry/118423#0007">118423.0007</a>). All 7 nucleotide substitutions cosegregated with the affected haplotypes. None were present in online SNP databases or on 788 control chromosomes. Five of the 7 resulted in nonconservative amino acid substitutions. All were predicted to alter amino acids that are conserved in 8 different species. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17197532+10942112+18653847+10577917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Miyake, N., Andrews, C., Fan, W., He, W., Chan, W.-M., Engle, E. C. <strong>CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. (Letter)</strong> Am. J. Med. Genet. 152A: 215-217, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20034095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20034095</a>] [<a href="https://doi.org/10.1002/ajmg.a.33168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20034095">Miyake et al. (2010)</a> screened the CHN1 gene in 140 sporadic patients with Duane retraction syndrome but did not detect any mutations, in contrast to the 35% detection rate of CHN1 mutation in familial DURS (7 of 20 pedigrees) found by <a href="#8" class="mim-tip-reference" title="Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others. <strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong> Science 321: 839-843, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18653847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18653847</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18653847[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/10.1126/science.1156121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18653847">Miyake et al. (2008)</a>. <a href="#7" class="mim-tip-reference" title="Miyake, N., Andrews, C., Fan, W., He, W., Chan, W.-M., Engle, E. C. <strong>CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. (Letter)</strong> Am. J. Med. Genet. 152A: 215-217, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20034095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20034095</a>] [<a href="https://doi.org/10.1002/ajmg.a.33168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20034095">Miyake et al. (2010)</a> concluded that CHN1 mutations are not a major cause of DURS among patients with sporadic disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20034095+18653847" 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 2 families segregating Duane retraction syndrome, <a href="#2" class="mim-tip-reference" title="Chan, W.-M., Miyake, N., Zhu-Tam, L., Andrews, C., Engle, E. C. <strong>Two novel CHN1 mutations in 2 families with Duane retraction syndrome.</strong> Arch. Ophthal. 129: 649-652, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21555619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21555619</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21555619[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/10.1001/archophthalmol.2011.84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21555619">Chan et al. (2011)</a> identified heterozygous gain-of-function mutations in the CHN1 gene (<a href="/entry/118423#0008">118423.0008</a>-<a href="/entry/118423#0009">118423.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21555619" 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>To test the hypothesis that overexpression of alpha-2-chimerin may result in aberrant axon development in vivo, <a href="#8" class="mim-tip-reference" title="Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others. <strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong> Science 321: 839-843, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18653847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18653847</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18653847[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/10.1126/science.1156121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18653847">Miyake et al. (2008)</a> used the chick in ovo system to overexpress alpha-2-chimerin in the embryonic oculomotor nucleus. In the majority (71-87%) of embryos overexpressing wildtype or mutant constructs, the oculomotor nerve stalled and its axons terminated prematurely adjacent to the dorsal rectus muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18653847" 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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Appukuttan, B., Gillanders, E., Juo, S.-H., Freas-Lutz, D., Ott, S., Sood, R., Van Auken, A., Bailey-Wilson, J., Wang, X., Patel, R. J., Robbins, C. M., Chung, M., Annett, G., Weinberg, K., Borchert, M. S., Trent, J. M., Brownstein, M. J., Stout, J. T.
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<strong>Localization of a gene for Duane retraction syndrome to chromosome 2q31.</strong>
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Am. J. Hum. Genet. 65: 1639-1646, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10577917[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=10577917" 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/10.1086/302656" target="_blank">Full Text</a>]
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Chan, W.-M., Miyake, N., Zhu-Tam, L., Andrews, C., Engle, E. C.
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<strong>Two novel CHN1 mutations in 2 families with Duane retraction syndrome.</strong>
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Arch. Ophthal. 129: 649-652, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21555619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21555619</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21555619[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=21555619" 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/10.1001/archophthalmol.2011.84" target="_blank">Full Text</a>]
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Chung, M., Stout, J. T., Borchert, M. S.
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<strong>Clinical diversity of hereditary Duane's retraction syndrome.</strong>
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Ophthalmology 107: 500-503, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10711888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10711888</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10711888" 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/s0161-6420(99)00090-1" target="_blank">Full Text</a>]
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<strong>Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus.</strong>
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Invest. Ophthal. Vis. Sci. 48: 194-202, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17197533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17197533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17197533[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=17197533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1167/iovs.06-0632" target="_blank">Full Text</a>]
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<strong>Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.</strong>
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Invest. Ophthal. Vis. Sci. 48: 189-193, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17197532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17197532</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17197532" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1167/iovs.06-0631" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Evans2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Evans, J. C., Frayling, T. M., Ellard, S., Gutowski, N. J.
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<strong>Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.</strong>
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Hum. Genet. 106: 636-638, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942112</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10942112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390000311" target="_blank">Full Text</a>]
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</p>
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<a id="7" class="mim-anchor"></a>
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<a id="Miyake2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miyake, N., Andrews, C., Fan, W., He, W., Chan, W.-M., Engle, E. C.
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<strong>CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. (Letter)</strong>
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Am. J. Med. Genet. 152A: 215-217, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20034095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20034095</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20034095" 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/ajmg.a.33168" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Miyake2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others.
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<strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong>
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Science 321: 839-843, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18653847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18653847</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18653847[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=18653847" 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/10.1126/science.1156121" 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="Miyake2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miyake, N., Demer, J. L., Shaaban, S., Andrews, C., Chan, W.-M., Christiansen, S. P., Hunter, D. G., Engle, E. C.
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<strong>Expansion of the CHN1 strabismus phenotype.</strong>
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Invest. Ophthal. Vis. Sci. 52: 6321-8328, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21715346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21715346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21715346[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=21715346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1167/iovs.11-7950" target="_blank">Full Text</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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Marla J. F. O'Neill - updated : 07/19/2016
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 3/13/2013<br>Jane Kelly - updated : 2/20/2012<br>Jane Kelly - updated : 8/15/2011<br>Ada Hamosh - updated : 9/3/2008<br>Jane Kelly - updated : 11/28/2007<br>Jane Kelly - updated : 7/18/2007<br>Marla J. F. O'Neill - updated : 8/9/2006<br>Victor A. McKusick - updated : 8/16/2000
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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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Victor A. McKusick : 12/21/1999
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alopez : 11/17/2023
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<span class="mim-text-font">
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carol : 07/19/2016<br>carol : 06/20/2016<br>carol : 3/13/2013<br>terry : 3/13/2013<br>alopez : 2/20/2012<br>carol : 8/17/2011<br>terry : 8/15/2011<br>alopez : 9/12/2008<br>terry : 9/3/2008<br>carol : 11/28/2007<br>carol : 7/18/2007<br>alopez : 8/9/2006<br>terry : 3/18/2004<br>mgross : 3/17/2004<br>carol : 8/29/2000<br>terry : 8/16/2000<br>carol : 12/21/1999
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<strong>#</strong> 604356
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<h3>
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DUANE RETRACTION SYNDROME 2; DURS2
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<strong>ORPHA:</strong> 233;
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<strong>DO:</strong> 0061028;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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2q31.1
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<span class="mim-font">
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Duane retraction syndrome 2
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<span class="mim-font">
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604356
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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CHN1
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<span class="mim-font">
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118423
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Duane retraction syndrome-2 (DURS2) is caused by heterozygous mutation in the CHN1 gene (118423) on chromosome 2q31.</p>
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<p>Duane retraction syndrome (DURS) is a congenital disorder characterized by restricted horizontal eye movement with globe retraction and palpebral fissure narrowing on attempted adduction. DURS is observed in approximately 0.1% of the general population, accounts for 1 to 5% of all strabismus, and if untreated in childhood can result in loss of binocular vision and amblyopia. Postmortem examinations of individuals with sporadic DURS have shown absence of the abducens motor neurons and abducens cranial nerve on the affected side(s), and aberrant innervation of the lateral rectus by axons of the oculomotor nerve that normally innervate the medial rectus muscle. Most patients are affected unilaterally and have no family history of the disorder (summary by Miyake et al., 2010). </p><p>For a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 (126800).</p>
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<strong>Clinical Features</strong>
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<p>Appukuttan et al. (1999) reported a large 4-generation Mexican family in which 25 living members were affected with Duane anomaly transmitted in an autosomal dominant pattern. Chung et al. (2000) studied 110 of the family members and examined the 25 patients in detail. None of the unaffected family members had evidence of neurologic abnormalities. All but 1 of the 25 patients had bilateral Duane anomaly of type 1 or type 3, and there was a high prevalence of manifest strabismus (76%) and amblyopia (48%). In 1 family subgroup, 3 patients had a unilateral fourth cranial nerve palsy. Other ophthalmic and neurologic abnormalities included unilateral congenital ptosis, upper eyelid retraction with downgaze, unilateral congenital deafness, nystagmus, and seizures, each observed in 1 patient. None of the patients had visible external ear or facial anomalies. </p><p>Evans et al. (2000) described a 4-generation family in the United Kingdom with autosomal dominant transmission of isolated bilateral Duane syndrome. Of 9 affected family members, 5 cases were type 1 bilaterally, 2 cases were type 3 bilaterally, and 2 cases were type 1 in the right eye and type 3 in the left eye. Eight cases had a primary position esotropia, and there was a vertical eye movement abnormality in 8 cases, 5 with a 'V' configuration and 3 with an 'A' configuration. </p><p>Demer et al. (2007) used high-resolution, multipositional MRI in a study of 5 male and 3 female affected members of 2 families with autosomal dominant Duane retraction syndrome mapping to chromosome 2. All patients had unilateral or bilateral limitation of abduction, or of both abduction and adduction, with palpebral fissure narrowing and globe retraction in adduction. Orbital motor nerves were typically small, with the abducens nerve (cranial nerve 6; CN6) often nondetectable. Lateral rectus muscles were structurally abnormal in 7 patients, with structural and motility evidence of oculomotor nerve (CN3) innervation from vertical rectus extraocular muscles (EOM) leading to A or V patterns of strabismus in 3 cases. Four cases had superior oblique, 2 cases superior rectus, and 2 cases levator EOM hypoplasia. Only the medial and inferior rectus and inferior oblique EOMs were spared. Two cases had small CN3s. Demer et al. (2007) concluded that DURS2 is a diffuse congenital cranial dysinnervation disorder involving but not limited to CN6. </p><p>Miyake et al. (2011) reported 5 family members with distinctive ocular dysmotility patterns that cosegregated with a novel hyperactivating CHN1 mutation. All 5 clinically affected family members exhibited monocular or binocular supraduction deficits, 3 in the absence of DURS2. MRI in 4 affected individuals demonstrated small or absent abducens nerves in all 4, small oculomotor nerve in 1, and small optic nerves in 3. Superior oblique muscle volume was also decreased in 3 of the individuals, supporting trochlear nerve hypoplasia. Miyake et al. (2011) concluded that their analysis of this pedigree expanded the phenotypic spectrum of hyperactivating CHN1 mutations to include vertical strabismus and supraduction deficits in the absence of Duane retraction syndrome. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of DURS2 in the family reported by Appukuttan et al. (1999) was consistent with autosomal dominant inheritance. </p>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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<span class="mim-text-font">
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<p>In a large 4-generation Mexican family with autosomal dominant Duane retraction syndrome, Appukuttan et al. (1999) demonstrated linkage to 2q31 (maximum lod score = 11.73 at theta = 0.0 for D2S2314). Haplotype analysis placed the affected gene in a 17.8-cM region. No recombinants were seen with markers between these 2 loci. The linked region contains the homeobox D gene cluster (see HOXD1; 142987). </p><p>In a 4-generation family with Duane syndrome in the U.K., Evans et al. (2000) demonstrated linkage to an interval of 8.8-cM on 2q31. </p><p>In 2 additional families with Duane retraction syndrome, one Hispanic and the other Caucasian, Engle et al. (2007) demonstrated linkage of the disorder within the same 8.8-cM interval, with maximum lod scores of 2.1 and 2.3 at D2S2314, respectively. </p><p>Miyake et al. (2008) further analyzed the recombination events that defined the DURS2 critical region (Appukuttan et al., 1999; Evans et al., 2000), reducing it from 9.9 to 4.6 Mb. </p>
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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 class="mim-text-font">
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<p>In 4 large families with Duane retraction syndrome mapping to chromosome 2q, previously reported by Appukuttan et al. (1999), Evans et al. (2000), and Engle et al. (2007), Miyake et al. (2008) screened 22 candidate genes and identified heterozygous missense changes in the CHN1 gene (118423.0001-118423.0004), which encodes 2 Rac-specific guanosine triphosphatase (GTPase)-activating alpha-chimerin isoforms. Analysis of CHN1 in 16 smaller DURS pedigrees revealed heterozygous mutations in 3 additional families (118423.0004-118423.0007). All 7 nucleotide substitutions cosegregated with the affected haplotypes. None were present in online SNP databases or on 788 control chromosomes. Five of the 7 resulted in nonconservative amino acid substitutions. All were predicted to alter amino acids that are conserved in 8 different species. </p><p>Miyake et al. (2010) screened the CHN1 gene in 140 sporadic patients with Duane retraction syndrome but did not detect any mutations, in contrast to the 35% detection rate of CHN1 mutation in familial DURS (7 of 20 pedigrees) found by Miyake et al. (2008). Miyake et al. (2010) concluded that CHN1 mutations are not a major cause of DURS among patients with sporadic disease. </p><p>In 2 families segregating Duane retraction syndrome, Chan et al. (2011) identified heterozygous gain-of-function mutations in the CHN1 gene (118423.0008-118423.0009). </p>
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<strong>Animal Model</strong>
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<p>To test the hypothesis that overexpression of alpha-2-chimerin may result in aberrant axon development in vivo, Miyake et al. (2008) used the chick in ovo system to overexpress alpha-2-chimerin in the embryonic oculomotor nucleus. In the majority (71-87%) of embryos overexpressing wildtype or mutant constructs, the oculomotor nerve stalled and its axons terminated prematurely adjacent to the dorsal rectus muscle. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Appukuttan, B., Gillanders, E., Juo, S.-H., Freas-Lutz, D., Ott, S., Sood, R., Van Auken, A., Bailey-Wilson, J., Wang, X., Patel, R. J., Robbins, C. M., Chung, M., Annett, G., Weinberg, K., Borchert, M. S., Trent, J. M., Brownstein, M. J., Stout, J. T.
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<strong>Localization of a gene for Duane retraction syndrome to chromosome 2q31.</strong>
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Am. J. Hum. Genet. 65: 1639-1646, 1999.
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[PubMed: 10577917]
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[Full Text: https://doi.org/10.1086/302656]
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<p class="mim-text-font">
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Chan, W.-M., Miyake, N., Zhu-Tam, L., Andrews, C., Engle, E. C.
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<strong>Two novel CHN1 mutations in 2 families with Duane retraction syndrome.</strong>
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Arch. Ophthal. 129: 649-652, 2011.
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[PubMed: 21555619]
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[Full Text: https://doi.org/10.1001/archophthalmol.2011.84]
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<p class="mim-text-font">
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Chung, M., Stout, J. T., Borchert, M. S.
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<strong>Clinical diversity of hereditary Duane's retraction syndrome.</strong>
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Ophthalmology 107: 500-503, 2000.
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[PubMed: 10711888]
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[Full Text: https://doi.org/10.1016/s0161-6420(99)00090-1]
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Demer, J. L., Clark, R. A., Lim, K.-H., Engle, E. C.
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<strong>Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus.</strong>
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Invest. Ophthal. Vis. Sci. 48: 194-202, 2007.
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[PubMed: 17197533]
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[Full Text: https://doi.org/10.1167/iovs.06-0632]
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<li>
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<p class="mim-text-font">
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Engle, E. C., Andrews, C., Law, K., Demer, J. L.
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<strong>Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.</strong>
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Invest. Ophthal. Vis. Sci. 48: 189-193, 2007.
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[PubMed: 17197532]
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[Full Text: https://doi.org/10.1167/iovs.06-0631]
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<p class="mim-text-font">
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Evans, J. C., Frayling, T. M., Ellard, S., Gutowski, N. J.
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<strong>Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.</strong>
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Hum. Genet. 106: 636-638, 2000.
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[PubMed: 10942112]
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[Full Text: https://doi.org/10.1007/s004390000311]
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Miyake, N., Andrews, C., Fan, W., He, W., Chan, W.-M., Engle, E. C.
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<strong>CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. (Letter)</strong>
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Am. J. Med. Genet. 152A: 215-217, 2010.
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[PubMed: 20034095]
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[Full Text: https://doi.org/10.1002/ajmg.a.33168]
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Miyake, N., Chilton, J., Psatha, M., Cheng, L., Andrews, C., Chan, W.-M., Law, K., Crosier, M., Lindsay, S., Cheung, M., Allen, J., Gutowski, N. J., and 15 others.
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<strong>Human CHN1 mutations hyperactivate alpha-2-chimaerin and cause Duane's retraction syndrome.</strong>
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Science 321: 839-843, 2008.
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[PubMed: 18653847]
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[Full Text: https://doi.org/10.1126/science.1156121]
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Miyake, N., Demer, J. L., Shaaban, S., Andrews, C., Chan, W.-M., Christiansen, S. P., Hunter, D. G., Engle, E. C.
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<strong>Expansion of the CHN1 strabismus phenotype.</strong>
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Invest. Ophthal. Vis. Sci. 52: 6321-8328, 2011.
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[PubMed: 21715346]
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[Full Text: https://doi.org/10.1167/iovs.11-7950]
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Marla J. F. O'Neill - updated : 07/19/2016<br>Marla J. F. O'Neill - updated : 3/13/2013<br>Jane Kelly - updated : 2/20/2012<br>Jane Kelly - updated : 8/15/2011<br>Ada Hamosh - updated : 9/3/2008<br>Jane Kelly - updated : 11/28/2007<br>Jane Kelly - updated : 7/18/2007<br>Marla J. F. O'Neill - updated : 8/9/2006<br>Victor A. McKusick - updated : 8/16/2000
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