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Entry
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- #116200 - CATARACT 1, MULTIPLE TYPES; CTRCT1
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- OMIM
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<p>
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<span class="h4">#116200</span>
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<br />
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<strong>Table of Contents</strong>
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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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<a href="/clinicalSynopsis/116200"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS116200"> <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="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</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="#history">History</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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CATARACT 1, MULTIPLE TYPES) OR (GJA8)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1584&Typ=Pat" title="Cataract-microcornea syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Cataract-microcornea syndr… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12152&Typ=Pat" title="Early onset non-syndromic cataract" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Early onset non-syndromic … </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7927" 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=116200[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1377" title="Cataract-microcornea syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Cataract-microcornea syndr…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91492" title="Early onset non-syndromic cataract" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Early onset non-syndromic …</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/62bd3215-1fc8-454b-b73c-4db63ab20093/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110231" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/116200" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002735/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</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> 1377, 91492<br />
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<strong>DO:</strong> 0110231<br />
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">ICD+</a>
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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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116200
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CATARACT 1, MULTIPLE TYPES; CTRCT1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA<br />
|
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CATARACT, DUFFY-LINKED<br />
|
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CATARACT, ZONULAR PULVERULENT, 1; CZP1; CZP; CAE1
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<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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<thead>
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Location
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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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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/1/1039?start=-3&limit=10&highlight=1039">
|
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1q21.2
|
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</a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Cataract 1, multiple types
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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/116200"> 116200 </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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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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GJA8
|
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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/600897"> 600897 </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>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/116200" 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="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
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|
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<a href="/phenotypicSeries/PS116200" 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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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/116200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/116200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
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<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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<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">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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|
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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>
|
|
</div>
|
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|
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</div>
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|
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nuclear cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53889007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53889007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5361003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5361003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/359766000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">359766000</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.33" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.33</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158551</a>, <a href="https://bioportal.bioontology.org/search?q=C0392557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392557</a>, <a href="https://bioportal.bioontology.org/search?q=C1112705&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1112705</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100018" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100018</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100018" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100018</a>]</span><br /> -
|
|
Pulverulent zonular cataract <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861828&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861828</a>, <a href="https://bioportal.bioontology.org/search?q=C4284095&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4284095</a>]</span><br /> -
|
|
Congenital cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79410001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79410001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q12.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q12.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</a>]</span><br /> -
|
|
Stellate nuclear cataract <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4316013&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4316013</a>]</span><br /> -
|
|
Posterior subcapsular cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/315353005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">315353005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0858617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0858617</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007787</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007787</a>]</span><br /> -
|
|
Microcornea (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26098002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26098002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
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<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 the gap junction membrane channel protein alpha-8 gene (GJA8, <a href="/entry/600897#0001">600897.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</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">
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Cataract
|
|
- <a href="/phenotypicSeries/PS116200">PS116200</a>
|
|
- 51 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/1/7?start=-3&limit=10&highlight=7"> 1pter-p36.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115665"> Cataract 8, multiple types </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>
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115665"> 115665 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115665"> CTRCT8 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115665"> 115665 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
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<a href="/geneMap/1/70?start=-3&limit=10&highlight=70"> 1p36.32 </a>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619593"> ?Cataract 49 </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/619593"> 619593 </a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606162"> PANK4 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606162"> 606162 </a>
|
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</span>
|
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</td>
|
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</tr>
|
|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/196?start=-3&limit=10&highlight=196"> 1p36.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116600"> Cataract 6, multiple types </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/116600"> 116600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176946"> EPHA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176946"> 176946 </a>
|
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</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/594?start=-3&limit=10&highlight=594"> 1p33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612968"> Cataract 34, multiple types </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612968"> 612968 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601094"> FOXE3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601094"> 601094 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1039?start=-3&limit=10&highlight=1039"> 1q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116200"> Cataract 1, multiple types </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/116200"> 116200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600897"> GJA8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600897"> 600897 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/2?start=-3&limit=10&highlight=2"> 2pter-p24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115800"> Cataract 29, coralliform </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/115800"> 115800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115800"> CTRCT29 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115800"> 115800 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/394?start=-3&limit=10&highlight=394"> 2p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607304"> Cataract 27, nuclear progressive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</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/607304"> 607304 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607304"> CTRCT27 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607304"> 607304 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/956?start=-3&limit=10&highlight=956"> 2q33.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115700"> Cataract 4, multiple types </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/115700"> 115700 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123690"> CRYGD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123690"> 123690 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/957?start=-3&limit=10&highlight=957"> 2q33.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604307"> Cataract 2, multiple types </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/604307"> 604307 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123680"> CRYGC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123680"> 123680 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/958?start=-3&limit=10&highlight=958"> 2q33.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615188"> Cataract 39, multiple types, autosomal dominant </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/615188"> 615188 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123670"> CRYGB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123670"> 123670 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1024?start=-3&limit=10&highlight=1024"> 2q35 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115900"> ?Cataract 42 </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/115900"> 115900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600836"> CRYBA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600836"> 600836 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/244?start=-3&limit=10&highlight=244"> 3p21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610019"> Cataract 18, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610019"> 610019 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607182"> FYCO1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607182"> 607182 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/691?start=-3&limit=10&highlight=691"> 3q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611597"> Cataract 12, multiple types </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/611597"> 611597 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603212"> BFSP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603212"> 603212 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/933?start=-3&limit=10&highlight=933"> 3q27.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116100"> Cataract 20, multiple types </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/116100"> 116100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123730"> CRYGS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123730"> 123730 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/69?start=-3&limit=10&highlight=69"> 4p16.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116400"> ?Cataract 41 </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/116400"> 116400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606201"> WFS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606201"> 606201 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/52?start=-3&limit=10&highlight=52"> 6p24.3-p24.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116700"> Cataract 13 with adult i phenotype </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116700"> 116700 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600429"> GCNT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600429"> 600429 </a>
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</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/408?start=-3&limit=10&highlight=408"> 6p21.31 </a>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/212500"> Cataract 46, juvenile-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/212500"> 212500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616312"> LEMD2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616312"> 616312 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/552?start=-3&limit=10&highlight=552"> 6p12-q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609026"> {Cataract 28, age-related cortical, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</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/609026"> 609026 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609026"> CTRCT28 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609026"> 609026 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/744?start=-3&limit=10&highlight=744"> 7q34 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614691"> Cataract 38, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614691"> 614691 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610345"> AGK </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610345"> 610345 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/214?start=-3&limit=10&highlight=214"> 9q13-q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605749"> Cataract 26, multiple types </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</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/605749"> 605749 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605749"> CTRCT26 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605749"> 605749 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/236?start=-3&limit=10&highlight=236"> 9q21.12-q21.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620253"> ?Cataract 50 with or without glaucoma </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/620253"> 620253 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608961"> TRPM3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608961"> 608961 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/340?start=-3&limit=10&highlight=340"> 9q22.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613887"> Cataract 36 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613887"> 613887 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611258"> TDRD7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611258"> 611258 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/82?start=-3&limit=10&highlight=82"> 10p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116300"> Cataract 30, pulverulent </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/116300"> 116300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193060"> VIM </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193060"> 193060 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/384?start=-3&limit=10&highlight=384"> 10q23.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612018"> Cataract 47, juvenile, with microcornea </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/612018"> 612018 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611910"> SLC16A12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611910"> 611910 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/471?start=-3&limit=10&highlight=471"> 10q24.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618415"> Cataract 48 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618415"> 618415 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611282"> DNMBP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611282"> 611282 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/512?start=-3&limit=10&highlight=512"> 10q24.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610623"> Cataract 11, syndromic, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610623"> 610623 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602669"> PITX3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602669"> 602669 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/512?start=-3&limit=10&highlight=512"> 10q24.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610623"> Cataract 11, multiple types </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610623"> 610623 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602669"> PITX3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602669"> 602669 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613763"> Cataract 16, multiple types </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613763"> 613763 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123590"> CRYAB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123590"> 123590 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/515?start=-3&limit=10&highlight=515"> 12q13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615274"> Cataract 15, multiple types </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/615274"> 615274 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/154050"> MIP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/154050"> 154050 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/839?start=-3&limit=10&highlight=839"> 12q24.2-q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614422"> Cataract 37, autosomal dominant </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/614422"> 614422 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614422"> CTRCT37 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614422"> 614422 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/14?start=-3&limit=10&highlight=14"> 13q12.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601885"> Cataract 14, multiple types </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/601885"> 601885 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121015"> GJA3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121015"> 121015 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/222?start=-3&limit=10&highlight=222"> 14q22-q23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115650"> Cataract 32, multiple types </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/115650"> 115650 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115650"> CTRCT32 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115650"> 115650 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/166?start=-3&limit=10&highlight=166"> 15q21-q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605728"> Cataract 25 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</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/605728"> 605728 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605728"> CTRCT25 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605728"> 605728 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/535?start=-3&limit=10&highlight=535"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116800"> Cataract 5, multiple types </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/116800"> 116800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602438"> HSF4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602438"> 602438 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/667?start=-3&limit=10&highlight=667"> 16q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610202"> Cataract 21, multiple types </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/610202"> 610202 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/177075"> MAF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/177075"> 177075 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/3?start=-3&limit=10&highlight=3"> 17p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601202"> Cataract 24, anterior polar </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/601202"> 601202 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601202"> CTRCT24 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601202"> 601202 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/363?start=-3&limit=10&highlight=363"> 17q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600881"> Cataract 10, multiple types </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/600881"> 600881 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123610"> CRYBA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123610"> 123610 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/417?start=-3&limit=10&highlight=417"> 17q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616279"> ?Cataract 43 </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/616279"> 616279 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611220"> UNC45B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611220"> 611220 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/860?start=-3&limit=10&highlight=860"> 17q24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115660"> Cataract 7 </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/115660"> 115660 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115660"> CTRCT7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115660"> 115660 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/533?start=-3&limit=10&highlight=533"> 19q13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609376"> Cataract 35, congenital nuclear </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609376"> 609376 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609376"> CTRCT35 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609376"> 609376 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/634?start=-3&limit=10&highlight=634"> 19q13.13-q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616851"> ?Cataract 45 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616851"> 616851 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616655"> SIPA1L3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616655"> 616655 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/1027?start=-3&limit=10&highlight=1027"> 19q13.41 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615277"> Cataract 19, multiple types </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615277"> 615277 </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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<a href="/entry/154045"> LIM2 </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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<a href="/entry/154045"> 154045 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/20/113?start=-3&limit=10&highlight=113"> 20p12.1 </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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<a href="/entry/611391"> Cataract 33, multiple types </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>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611391"> 611391 </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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<a href="/entry/603307"> BFSP1 </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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<a href="/entry/603307"> 603307 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/20/220?start=-3&limit=10&highlight=220"> 20q11.22 </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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<a href="/entry/605387"> Cataract 31, multiple types </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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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/605387"> 605387 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/610897"> CHMP4B </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/610897"> 610897 </a>
|
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</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
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<td>
|
|
<span class="mim-font">
|
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|
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<a href="/geneMap/21/144?start=-3&limit=10&highlight=144"> 21q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604219"> Cataract 9, multiple types </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604219"> 604219 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123580"> CRYAA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123580"> 123580 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/21/178?start=-3&limit=10&highlight=178"> 21q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616509"> Cataract 44 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616509"> 616509 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600909"> LSS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600909"> 600909 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/120?start=-3&limit=10&highlight=120"> 22q11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609741"> Cataract 22 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609741"> 609741 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123630"> CRYBB3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123630"> 123630 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/121?start=-3&limit=10&highlight=121"> 22q11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601547"> Cataract 3, multiple types </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/601547"> 601547 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123620"> CRYBB2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123620"> 123620 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/134?start=-3&limit=10&highlight=134"> 22q12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610425"> Cataract 23 </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/610425"> 610425 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123631"> CRYBA4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123631"> 123631 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/135?start=-3&limit=10&highlight=135"> 22q12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611544"> Cataract 17, multiple types </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611544"> 611544 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600929"> CRYBB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600929"> 600929 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/95?start=-3&limit=10&highlight=95"> Xp22.2-p22.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302200"> Cataract 40, X-linked </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</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/302200"> 302200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300457"> NHS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300457"> 300457 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
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<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
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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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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because multiple types of cataract (CTRCT1) are caused by heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8; <a href="/entry/600897">600897</a>) on chromosome 1q21.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene.</p><p>Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1.</p>
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</span>
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<div>
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<br />
|
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<p><a href="#25" class="mim-tip-reference" title="Renwick, J. H., Lawler, S. D. <strong>Probable linkage between a congenital cataract locus and the Duffy blood group locus.</strong> Ann. Hum. Genet. 27: 67-84, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14059288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14059288</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1963.tb00782.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14059288">Renwick and Lawler (1963)</a> studied the 'Ev.' kindred with zonular pulverulent cataract that had been described earlier by <a href="#20" class="mim-tip-reference" title="Nettleship, E. <strong>Seven new pedigrees of hereditary cataract.</strong> Trans. Ophthal. Soc. U.K. 29: 188-211, 1909."None>Nettleship (1909)</a>. <a href="#25" class="mim-tip-reference" title="Renwick, J. H., Lawler, S. D. <strong>Probable linkage between a congenital cataract locus and the Duffy blood group locus.</strong> Ann. Hum. Genet. 27: 67-84, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14059288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14059288</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1963.tb00782.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14059288">Renwick and Lawler (1963)</a> referred to the disorder as congenital zonular cataract; <a href="#24" class="mim-tip-reference" title="Renwick, J. H. <strong>Eyes on chromosomes.</strong> J. Med. Genet. 7: 239-243, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5489092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5489092</a>] [<a href="https://doi.org/10.1136/jmg.7.3.239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5489092">Renwick (1970)</a> described it as total nuclear cataract. <a href="#23" class="mim-tip-reference" title="Renwick, J. H. <strong>Personal Communication.</strong> London, England 3/16/1987."None>Renwick (1987)</a> stated that the Duffy-linked ('Ev.') type of cataract (see MAPPING) is zonular with a pulverulent center, affecting both the embryonic nucleus and the fetal nucleus, i.e., is 'total nuclear.' It is larger (about 4 mm) than the Coppock-like cataract (see <a href="/entry/604307">604307</a>) (about 2 mm), which is limited to the embryonic nucleus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14059288+5489092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Conneally, P. M., Wilson, A. F., Merritt, A. D., Helveston, E. M., Palmer, C. G., Wang, L. V. <strong>Confirmation of genetic heterogeneity in autosomal dominant forms of congenital cataracts from linkage studies.</strong> Cytogenet. Cell Genet. 22: 295-297, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/752489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">752489</a>] [<a href="https://doi.org/10.1159/000130957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="752489">Conneally et al. (1978)</a> reported a family with lenticular opacities located in the fetal nucleus with scattered, fine, diffuse cortical opacities and incomplete cortical 'riders' similar to those described by <a href="#20" class="mim-tip-reference" title="Nettleship, E. <strong>Seven new pedigrees of hereditary cataract.</strong> Trans. Ophthal. Soc. U.K. 29: 188-211, 1909."None>Nettleship (1909)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=752489" 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="Crews, S. J., Bundey, S. E. <strong>Is there an X-linked form of congenital cataracts? (Letter)</strong> Clin. Genet. 21: 351-353, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7116682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7116682</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01384.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7116682">Crews and Bundey (1982)</a> reported a 4-generation family in which congenital cataract segregated as an autosomal dominant, with 9 affected males and 1 affected female, as well as 1 female who was clinically unaffected but did have cataract upon ophthalmologic examination; father-to-son transmission was evident in 1 branch of the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7116682" 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="#29" class="mim-tip-reference" title="Stefaniak, E., Zaremba, J., Cieslinska, I., Kropinska, E. <strong>An unusual pedigree with microcornea-cataract syndrome.</strong> J. Med. Genet. 32: 813-815, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8558562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8558562</a>] [<a href="https://doi.org/10.1136/jmg.32.10.813" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8558562">Stefaniak et al. (1995)</a> reported a family in which 14 members had cataract with microcornea. Transmission was probably autosomal dominant, although the proportion of affected members was so high that <a href="#29" class="mim-tip-reference" title="Stefaniak, E., Zaremba, J., Cieslinska, I., Kropinska, E. <strong>An unusual pedigree with microcornea-cataract syndrome.</strong> J. Med. Genet. 32: 813-815, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8558562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8558562</a>] [<a href="https://doi.org/10.1136/jmg.32.10.813" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8558562">Stefaniak et al. (1995)</a> were tempted to suspect preferential transmission of the chromosome carrying the mutant gene. In this 4-generation family, all 7 members of the third generation were affected and almost all members of the fourth generation as well. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8558562" 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="#2" class="mim-tip-reference" title="Berry, V., Mackay, D., Khaliq, S., Francis, P. J., Hameed, A., Anwar, K., Mehdi, S. Q., Newbold, R. J., Ionides, A., Shiels, A., Moore, T., Bhattacharya, S. S. <strong>Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin.</strong> Hum. Genet. 105: 168-170, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10480374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10480374</a>] [<a href="https://doi.org/10.1007/s004399900094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10480374">Berry et al. (1999)</a> examined affected members of a family of Pakistani origin segregating autosomal dominant congenital nonprogressive zonular nuclear pulverulent cataract. All 10 affected individuals displayed the same pulverulent phenotype, but unlike the cataracts previously described by <a href="#27" class="mim-tip-reference" title="Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S. <strong>A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q.</strong> Am. J. Hum. Genet. 62: 526-532, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497259</a>] [<a href="https://doi.org/10.1086/301762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497259">Shiels et al. (1998)</a> in 2 distantly related branches of the English kindred originally reported by <a href="#25" class="mim-tip-reference" title="Renwick, J. H., Lawler, S. D. <strong>Probable linkage between a congenital cataract locus and the Duffy blood group locus.</strong> Ann. Hum. Genet. 27: 67-84, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14059288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14059288</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1963.tb00782.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14059288">Renwick and Lawler (1963)</a>, this family had fine dust-like opacities that were most dense throughout the nucleus, as well as several cortical 'riders' present in the zonular region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14059288+9497259+10480374" 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="#22" class="mim-tip-reference" title="Polyakov, A. V., Shagina I. A., Khlebnikova, O. V., Evgrafov, O. V. <strong>Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. (Letter)</strong> Clin. Genet. 60: 476-478, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11846744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11846744</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2001.600614.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11846744">Polyakov et al. (2001)</a> described a mother and son from a 3-generation Russian family segregating autosomal dominant zonular pulverulent cataract. The boy had onset of disease at 3 years of age; examination revealed bilateral nonhomogeneous pulverulent cataracts consisting of opaque particles of different sizes, most of them very small, unevenly distributed in a 5-mm disc in the center of the lens, as well as a slightly cloudy nonhomogeneous 2-mm area in the posterior pole region. Progression of the disease was symmetrical in both eyes. His mother had a similar phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11846744" 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="#33" class="mim-tip-reference" title="Willoughby, C. E., Arab, S., Gandhi, R., Zeinali, S., Arab, S., Luk, D., Billingsley, G., Munier, F. L., Heon, E. <strong>A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.</strong> J. Med. Genet. 40: e124, 2003. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14627691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14627691</a>] [<a href="https://doi.org/10.1136/jmg.40.11.e124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14627691">Willoughby et al. (2003)</a> reported a 4-generation Iranian family segregating autosomal dominant progressive congenital nuclear cataract. Affected family members had bilateral congenital cataracts that progressed and required surgery in the second and third decades due to dense fetal/embryonal nuclear cataract. No other systemic or ocular defects were present, including microcornea or microphthalmia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14627691" 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 kindred known as 'Ev.' with zonular pulverulent cataract, previously described by <a href="#20" class="mim-tip-reference" title="Nettleship, E. <strong>Seven new pedigrees of hereditary cataract.</strong> Trans. Ophthal. Soc. U.K. 29: 188-211, 1909."None>Nettleship (1909)</a>, <a href="#25" class="mim-tip-reference" title="Renwick, J. H., Lawler, S. D. <strong>Probable linkage between a congenital cataract locus and the Duffy blood group locus.</strong> Ann. Hum. Genet. 27: 67-84, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14059288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14059288</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1963.tb00782.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14059288">Renwick and Lawler (1963)</a> demonstrated linkage with the Duffy blood group, which was later mapped to chromosome 1q21-q22 (see <a href="/entry/110700">110700</a>). <a href="#24" class="mim-tip-reference" title="Renwick, J. H. <strong>Eyes on chromosomes.</strong> J. Med. Genet. 7: 239-243, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5489092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5489092</a>] [<a href="https://doi.org/10.1136/jmg.7.3.239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5489092">Renwick (1970)</a> discussed the possibility that some other forms of dominant cataract might be linked with Duffy. A morphologically identical cataract was described by <a href="#11" class="mim-tip-reference" title="Hammerstein, W., Scholt, W. <strong>Familiaere Form einer 'Cataracta centralis': klinisch-genetische Studie mit Koppelungsdaten.</strong> Graefe Arch. Klin. Exp. Ophthal. 189: 9-19, 1973."None>Hammerstein and Scholt (1973)</a> who in their kindred found no linkage with Duffy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14059288+5489092" 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 family with zonular pulverulent cataract with fine, diffuse cortical opacities and incomplete cortical 'riders' similar to those described by <a href="#20" class="mim-tip-reference" title="Nettleship, E. <strong>Seven new pedigrees of hereditary cataract.</strong> Trans. Ophthal. Soc. U.K. 29: 188-211, 1909."None>Nettleship (1909)</a>, <a href="#5" class="mim-tip-reference" title="Conneally, P. M., Wilson, A. F., Merritt, A. D., Helveston, E. M., Palmer, C. G., Wang, L. V. <strong>Confirmation of genetic heterogeneity in autosomal dominant forms of congenital cataracts from linkage studies.</strong> Cytogenet. Cell Genet. 22: 295-297, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/752489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">752489</a>] [<a href="https://doi.org/10.1159/000130957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="752489">Conneally et al. (1978)</a> found linkage to 1qh (lod of 2.7 at a recombination fraction of 0.0); no linkage to 1q was found in several other families with cataract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=752489" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#25" class="mim-tip-reference" title="Renwick, J. H., Lawler, S. D. <strong>Probable linkage between a congenital cataract locus and the Duffy blood group locus.</strong> Ann. Hum. Genet. 27: 67-84, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14059288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14059288</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1963.tb00782.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14059288">Renwick and Lawler (1963)</a> demonstrated that the locus for cataract in the English family originally reported by <a href="#20" class="mim-tip-reference" title="Nettleship, E. <strong>Seven new pedigrees of hereditary cataract.</strong> Trans. Ophthal. Soc. U.K. 29: 188-211, 1909."None>Nettleship (1909)</a> cosegregated in an autosomal dominant manner with the Duffy blood group locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14059288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 distantly related branches of an 8-generation English kindred known as 'Ev.' with zonular pulverulent cataract, in which <a href="#25" class="mim-tip-reference" title="Renwick, J. H., Lawler, S. D. <strong>Probable linkage between a congenital cataract locus and the Duffy blood group locus.</strong> Ann. Hum. Genet. 27: 67-84, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14059288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14059288</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1963.tb00782.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14059288">Renwick and Lawler (1963)</a> demonstrated linkage to the Duffy blood group, <a href="#26" class="mim-tip-reference" title="Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S. <strong>A missense mutation in the GJA8 gene underlies autosomal dominant cataract on human chromosome 1q. (Abstract)</strong> Am. J. Hum. Genet. 61 (suppl.): A21 only, 1997."None>Shiels et al. (1997)</a> and <a href="#27" class="mim-tip-reference" title="Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S. <strong>A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q.</strong> Am. J. Hum. Genet. 62: 526-532, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497259</a>] [<a href="https://doi.org/10.1086/301762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497259">Shiels et al. (1998)</a> found evidence of linkage to the region of chromosome 1q where the GJA8 gene (<a href="/entry/600897">600897</a>) is located. Sequencing of the entire protein coding region of the GJA8 gene demonstrated a C-to-T transition (<a href="/entry/600897#0001">600897.0001</a>) that created a novel MnlI restriction enzyme site. Restriction analysis confirmed that this change was present only in affected members of the pedigree and was not detectable in 50 unrelated normal chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14059288+9497259" 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="#16" class="mim-tip-reference" title="Hejtmancik, J. F. <strong>The genetics of cataract: our vision becomes clearer. (Editorial)</strong> Am. J. Hum. Genet. 62: 520-525, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497271</a>] [<a href="https://doi.org/10.1086/301774" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497271">Hejtmancik (1998)</a> presented a table of 9 loci, including this one, which had been implicated in nonsyndromal cataract and mapped to specific chromosomal sites. Eight animal models of cataract in which molecular defects had been identified were also tabulated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9497271" 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="#2" class="mim-tip-reference" title="Berry, V., Mackay, D., Khaliq, S., Francis, P. J., Hameed, A., Anwar, K., Mehdi, S. Q., Newbold, R. J., Ionides, A., Shiels, A., Moore, T., Bhattacharya, S. S. <strong>Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin.</strong> Hum. Genet. 105: 168-170, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10480374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10480374</a>] [<a href="https://doi.org/10.1007/s004399900094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10480374">Berry et al. (1999)</a> studied 10 affected and 5 unaffected members of a family of Pakistani origin segregating autosomal dominant congenital nonprogressive zonular nuclear pulverulent cataract and found linkage to the CZP locus; analysis of the GJA8 gene revealed heterozygosity for a missense mutation (E48K; <a href="/entry/600897#0002">600897.0002</a>) in affected individuals that was not found in 100 ethnically matched control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10480374" 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 mother and son from a 3-generation Russian family with zonular pulverulent cataract, <a href="#22" class="mim-tip-reference" title="Polyakov, A. V., Shagina I. A., Khlebnikova, O. V., Evgrafov, O. V. <strong>Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. (Letter)</strong> Clin. Genet. 60: 476-478, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11846744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11846744</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2001.600614.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11846744">Polyakov et al. (2001)</a> identified heterozygosity for a missense mutation in the GJA8 gene (I247M; <a href="/entry/600897#0003">600897.0003</a>) that was not found in unaffected family members or 25 unrelated controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11846744" 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 Iranian family segregating autosomal dominant progressive congenital nuclear cataract, <a href="#33" class="mim-tip-reference" title="Willoughby, C. E., Arab, S., Gandhi, R., Zeinali, S., Arab, S., Luk, D., Billingsley, G., Munier, F. L., Heon, E. <strong>A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.</strong> J. Med. Genet. 40: e124, 2003. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14627691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14627691</a>] [<a href="https://doi.org/10.1136/jmg.40.11.e124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14627691">Willoughby et al. (2003)</a> identified heterozygosity for a missense mutation in the GJA8 gene (R23T; <a href="/entry/600897#0004">600897.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14627691" 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="Devi, R. R., Vijayalakshmi, P. <strong>Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.</strong> Molec. Vis. 12: 190-195, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16604058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16604058</a>]" pmid="16604058">Devi and Vijayalakshmi (2006)</a> analyzed the GJA8 gene in 60 unrelated Indian patients with congenital or early childhood cataract, and identified 2 different missense mutations (<a href="/entry/600897#0005">600897.0005</a> and <a href="/entry/600897#0006">600897.0006</a>, respectively) in 2 probands from families with cataract and microcornea, variably associated with myopia. One proband had a total cataract and the other had a posterior subcapsular cataract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16604058" 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 10 Danish families segregating autosomal dominant developmental cataract and microcornea, <a href="#12" class="mim-tip-reference" title="Hansen, L., Yao, W., Eiberg, H., Kjaer, K. W., Baggersen, K., Hejtmancik, J. F., Rosenberg, T. <strong>Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.</strong> Invest. Ophthal. Vis. Sci. 48: 3937-3944, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17724170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17724170</a>] [<a href="https://doi.org/10.1167/iovs.07-0013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17724170">Hansen et al. (2007)</a> analyzed 9 candidate genes and identified 5 families with heterozygous mutations, 3 of which were in the CRYAA gene (<a href="/entry/123580#0007">123580.0007</a>-<a href="/entry/123580#0009">123580.0009</a>), 1 in the GJA8 gene (<a href="/entry/600897#0008">600897.0008</a>), and 1 in the CRYGD gene (<a href="/entry/123690#0008">123690.0008</a>). Corneal diameters varied between 8 and 10 mm. Nystagmus was present in some families and absent in others, depending primarily on the degree of visual impairment during the first months of life. Cataract phenotypes varied, but most cataracts had a clear peripheral zone. In some patients, cataract progression during the first years of life was noted. In the family with the GJA8 mutation, the cataract was described as a star-shaped nuclear opacity with a whitish central core. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17724170" 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="#1" class="mim-tip-reference" title="Arora, A., Minogue, P. J., Liu, X., Addison, P. K., Russel-Eggitt, I., Webster, A. R., Hunt, D. M., Ebihara, L., Beyer, E. C., Berthoud, V. M., Moore, A. T. <strong>A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.</strong> J. Med. Genet. 45: 155-160, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18006672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18006672</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18006672[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2007.051029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18006672">Arora et al. (2008)</a> sequenced the GJA8 gene in 150 families with inherited cataract and identified heterozygosity for a missense mutation (<a href="/entry/600897#0007">600897.0007</a>) in a 2-generation Caucasian family segregating autosomal dominant congenital nuclear pulverulent cataract. <a href="#15" class="mim-tip-reference" title="He, W., Li, X., Chen, J., Xu, L., Zhang, F., Dai, Q., Cui, H., Wang, D.-M., Yu, J., Hu, S., Lu, S. <strong>Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.</strong> Ophthalmic Genet. 32: 48-53, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21174522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21174522</a>] [<a href="https://doi.org/10.3109/13816810.2010.535886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21174522">He et al. (2011)</a> identified the same mutation in affected members of a 6-generation Chinese family segregating nuclear cataract as well as in 1 unaffected member of the family, suggesting incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21174522+18006672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Chung, J., Berthoud, V. M., Novak, L., Zoltoski, R., Heilbrunn, B., Minogue, P. J., Liu, X., Ebihara, L., Kuszak, J., Beyer, E. B. <strong>Transgenic overexpression of connexin-50 induces cataracts.</strong> Exp. Eye Res. 84: 513-528, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17217947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17217947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17217947[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.exer.2006.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17217947">Chung et al. (2007)</a> demonstrated that transgenic expression of Cx50 in mice led to cataracts associated with formation of cytoplasmic vesicles containing Cx50 and decreased or slowed epithelial differentiation without major alterations in the distribution of other integral membrane or membrane-associated proteins or the integrity/solubility of crystallins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17217947" 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>Pulverulent cataract was the first inherited disease to be linked to a human autosome: the linkage to Duffy was demonstrated by <a href="#25" class="mim-tip-reference" title="Renwick, J. H., Lawler, S. D. <strong>Probable linkage between a congenital cataract locus and the Duffy blood group locus.</strong> Ann. Hum. Genet. 27: 67-84, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14059288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14059288</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1963.tb00782.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14059288">Renwick and Lawler (1963)</a> and the location of the Duffy locus (<a href="/entry/110700">110700</a>) on 1q was established by <a href="#9" class="mim-tip-reference" title="Donahue, R. P., Bias, W. B., Renwick, J. H., McKusick, V. A. <strong>Probable assignment of the Duffy blood group locus to chromosome 1 in man.</strong> Proc. Nat. Acad. Sci. 61: 949-955, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5246559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5246559</a>] [<a href="https://doi.org/10.1073/pnas.61.3.949" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5246559">Donahue et al. (1968)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14059288+5246559" 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="#14" class="mim-tip-reference" title="Harman, N. B. <strong>Congenital cataract, a pedigree of five generations.</strong> Trans. Ophthal. Soc. U.K. 29: 101-108, 1909."None>Harman (1909)</a> described a 5-generation nonconsanguineous family in which 19 members had isolated congenital cataract. The author noted that in many cases the opacities were quite small, close to the nuclear region, and had a shape suggesting a disturbance in the union of the anterior ends of the lens fibers as they grew forward. <a href="#13" class="mim-tip-reference" title="Harman, N. B. <strong>Ten pedigrees of congenital and infantile cataract; lamellar, coralliform, discoid, and posterior polar with microphthalmia.</strong> Trans. Ophthal. Soc. U.K. 30: 251-274, 1910."None>Harman (1910)</a> reported a series of 8 nonconsanguineous pedigrees with various forms of congenital cataract (lamellar, coralliform, discoid).</p><p><a href="#28" class="mim-tip-reference" title="Smith, P. <strong>A pedigree of Doyne's discoid cataract.</strong> Trans. Ophthal. Soc. U.K. 30: 37-42, 1910."None>Smith (1910)</a> reported 26 cases of cataract in 4 generations.</p><p><a href="#31" class="mim-tip-reference" title="Vogt, A. <strong>Lehrbuch und Atlas der Spaltlampenmikroskopie des lebenden Auges. Linse und Zonula.</strong> Berlin: J. Springer (pub.) 1931."None>Vogt (1931)</a> and <a href="#32" class="mim-tip-reference" title="Weber, E. <strong>Weitere Untersuchungen ueber den kongenitalen, vererbten Kernstar (Cataracta nuclearis diffusa congenita hereditaria Vogt).</strong> Schweiz. Med. Wschr. 70: 295-297, 1940."None>Weber (1940)</a> documented autosomal dominant inheritance of nuclear diffuse nonprogressive cataract.</p><p><a href="#19" class="mim-tip-reference" title="Meissner, M. <strong>Augenaerztliches aus dem Blindeninstitut.</strong> Z. Augenheilkd. 80: 48-58, 1933."None>Meissner (1933)</a> reported 22 cases of congenital cataract in 6 generations of 1 family and 13 cases in 5 generations in a second. Three generations were affected in the family reported by <a href="#17" class="mim-tip-reference" title="Jahns, H. <strong>Angeborener Star in drei Generationen.</strong> Klin. Monatsbl. Augenheilkd. 100: 481-482, 1938."None>Jahns (1938)</a>.</p><p><a href="#10" class="mim-tip-reference" title="Gruber, M. <strong>Ueber primaere familiaere Linsendysplasie.</strong> Ophthalmologica 110: 60-73, 1945.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21010647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21010647</a>] [<a href="https://doi.org/10.1159/000300260" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21010647">Gruber (1945)</a> described 6 cases of membranous cataract in 4 generations. This should be considered a total cataract that has undergone regression or resorption. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21010647" 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="#18" class="mim-tip-reference" title="Lee, J. B., Benedict, W. L. <strong>Hereditary nuclear cataract.</strong> Arch. Ophthal. 44: 643-650, 1950."None>Lee and Benedict (1950)</a> described 63 cases of cataract in 6 generations.</p><p><a href="#3" class="mim-tip-reference" title="Brown, A. L. <strong>Hereditary cataract.</strong> Am. J. Ophthal. 7: 36-38, 1924."None>Brown (1924)</a> and <a href="#21" class="mim-tip-reference" title="Parrow, R. D. <strong>Hereditary cataract in two families.</strong> Acta Paediat. 44: 460-464, 1955.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13292280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13292280</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1955.tb04268.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13292280">Parrow (1955)</a> reported pedigrees with autosomal dominant inheritance of nuclear total cataract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13292280" 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>Transmission of floriform cataract was recorded through 4 generations by <a href="#8" class="mim-tip-reference" title="Doggart, J. H. <strong>Congenital cataract.</strong> Trans. Ophthal. Soc. U.K. 77: 31-37, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13530096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13530096</a>]" pmid="13530096">Doggart (1957)</a> and through 5 generations by <a href="#30" class="mim-tip-reference" title="Tosch, C. <strong>Beitrag zur Stammbaumforschung der Cataracta floriformis.</strong> Klin. Monatsbl. Augenheilkd. 133: 60-66, 1958."None>Tosch (1958)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13530096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1159/000130957" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01384.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.61.3.949" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000300260" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1167/iovs.07-0013" target="_blank">Full Text</a>]
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11846744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11846744</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11846744" 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/10.1034/j.1399-0004.2001.600614.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="23" class="mim-anchor"></a>
|
|
<a id="Renwick1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Renwick, J. H.
|
|
<strong>Personal Communication.</strong>
|
|
London, England 3/16/1987.
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</p>
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</div>
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</li>
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<li>
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<a id="24" class="mim-anchor"></a>
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|
<a id="Renwick1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Renwick, J. H.
|
|
<strong>Eyes on chromosomes.</strong>
|
|
J. Med. Genet. 7: 239-243, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5489092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5489092</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5489092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.7.3.239" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="25" class="mim-anchor"></a>
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<a id="Renwick1963" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Renwick, J. H., Lawler, S. D.
|
|
<strong>Probable linkage between a congenital cataract locus and the Duffy blood group locus.</strong>
|
|
Ann. Hum. Genet. 27: 67-84, 1963.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14059288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14059288</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14059288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1111/j.1469-1809.1963.tb00782.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="Shiels1997" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S.
|
|
<strong>A missense mutation in the GJA8 gene underlies autosomal dominant cataract on human chromosome 1q. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 61 (suppl.): A21 only, 1997.
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</p>
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</div>
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</li>
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<li>
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<a id="27" class="mim-anchor"></a>
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<a id="Shiels1998" class="mim-anchor"></a>
|
|
<div class="">
|
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<p class="mim-text-font">
|
|
Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S.
|
|
<strong>A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q.</strong>
|
|
Am. J. Hum. Genet. 62: 526-532, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9497259" 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/10.1086/301762" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="28" class="mim-anchor"></a>
|
|
<a id="Smith1910" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smith, P.
|
|
<strong>A pedigree of Doyne's discoid cataract.</strong>
|
|
Trans. Ophthal. Soc. U.K. 30: 37-42, 1910.
|
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</p>
|
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</div>
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</li>
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<li>
|
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<a id="29" class="mim-anchor"></a>
|
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<a id="Stefaniak1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stefaniak, E., Zaremba, J., Cieslinska, I., Kropinska, E.
|
|
<strong>An unusual pedigree with microcornea-cataract syndrome.</strong>
|
|
J. Med. Genet. 32: 813-815, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8558562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8558562</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8558562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.32.10.813" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Tosch1958" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Tosch, C.
|
|
<strong>Beitrag zur Stammbaumforschung der Cataracta floriformis.</strong>
|
|
Klin. Monatsbl. Augenheilkd. 133: 60-66, 1958.
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</p>
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</div>
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</li>
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<li>
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<a id="31" class="mim-anchor"></a>
|
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<a id="Vogt1931" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Vogt, A.
|
|
<strong>Lehrbuch und Atlas der Spaltlampenmikroskopie des lebenden Auges. Linse und Zonula.</strong>
|
|
Berlin: J. Springer (pub.) 1931.
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</p>
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</div>
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</li>
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<li>
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<a id="32" class="mim-anchor"></a>
|
|
<a id="Weber1940" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Weber, E.
|
|
<strong>Weitere Untersuchungen ueber den kongenitalen, vererbten Kernstar (Cataracta nuclearis diffusa congenita hereditaria Vogt).</strong>
|
|
Schweiz. Med. Wschr. 70: 295-297, 1940.
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</p>
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</div>
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</li>
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Willoughby2003" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Willoughby, C. E., Arab, S., Gandhi, R., Zeinali, S., Arab, S., Luk, D., Billingsley, G., Munier, F. L., Heon, E.
|
|
<strong>A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.</strong>
|
|
J. Med. Genet. 40: e124, 2003. Note: Electronic Article.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14627691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14627691</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14627691" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.40.11.e124" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/21/2013
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/26/2013<br>Jane Kelly - updated : 4/16/2008<br>Marla J. F. O'Neill - updated : 11/19/2007<br>Victor A. McKusick - updated : 5/7/1998<br>Victor A. McKusick - updated : 10/23/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/07/2014
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mcolton : 8/7/2014<br>mcolton : 8/7/2014<br>carol : 10/22/2013<br>carol : 10/21/2013<br>carol : 7/19/2013<br>carol : 5/9/2013<br>carol : 4/26/2013<br>carol : 4/26/2013<br>carol : 8/28/2012<br>carol : 8/27/2012<br>terry : 3/21/2012<br>alopez : 12/8/2010<br>carol : 4/16/2008<br>carol : 11/19/2007<br>terry : 11/16/2007<br>carol : 10/15/2002<br>alopez : 8/19/2002<br>mgross : 11/22/1999<br>alopez : 5/13/1998<br>terry : 5/7/1998<br>terry : 10/28/1997<br>alopez : 10/27/1997<br>terry : 10/24/1997<br>terry : 10/23/1997<br>terry : 6/23/1997<br>terry : 8/24/1994<br>davew : 6/27/1994<br>mimadm : 6/25/1994<br>warfield : 4/7/1994<br>carol : 10/21/1993<br>carol : 1/8/1993
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
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<strong>#</strong> 116200
|
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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CATARACT 1, MULTIPLE TYPES; CTRCT1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA<br />
|
|
CATARACT, DUFFY-LINKED<br />
|
|
CATARACT, ZONULAR PULVERULENT, 1; CZP1; CZP; CAE1
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 1377, 91492;
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<strong>DO:</strong> 0110231;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
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</thead>
|
|
<tbody>
|
|
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
1q21.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Cataract 1, multiple types
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
116200
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GJA8
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
600897
|
|
</span>
|
|
</td>
|
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</tr>
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|
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</tbody>
|
|
</table>
|
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</div>
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
|
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because multiple types of cataract (CTRCT1) are caused by heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8; 600897) on chromosome 1q21.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<p>Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene.</p><p>Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1.</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<p>Renwick and Lawler (1963) studied the 'Ev.' kindred with zonular pulverulent cataract that had been described earlier by Nettleship (1909). Renwick and Lawler (1963) referred to the disorder as congenital zonular cataract; Renwick (1970) described it as total nuclear cataract. Renwick (1987) stated that the Duffy-linked ('Ev.') type of cataract (see MAPPING) is zonular with a pulverulent center, affecting both the embryonic nucleus and the fetal nucleus, i.e., is 'total nuclear.' It is larger (about 4 mm) than the Coppock-like cataract (see 604307) (about 2 mm), which is limited to the embryonic nucleus. </p><p>Conneally et al. (1978) reported a family with lenticular opacities located in the fetal nucleus with scattered, fine, diffuse cortical opacities and incomplete cortical 'riders' similar to those described by Nettleship (1909). </p><p>Crews and Bundey (1982) reported a 4-generation family in which congenital cataract segregated as an autosomal dominant, with 9 affected males and 1 affected female, as well as 1 female who was clinically unaffected but did have cataract upon ophthalmologic examination; father-to-son transmission was evident in 1 branch of the family. </p><p>Stefaniak et al. (1995) reported a family in which 14 members had cataract with microcornea. Transmission was probably autosomal dominant, although the proportion of affected members was so high that Stefaniak et al. (1995) were tempted to suspect preferential transmission of the chromosome carrying the mutant gene. In this 4-generation family, all 7 members of the third generation were affected and almost all members of the fourth generation as well. </p><p>Berry et al. (1999) examined affected members of a family of Pakistani origin segregating autosomal dominant congenital nonprogressive zonular nuclear pulverulent cataract. All 10 affected individuals displayed the same pulverulent phenotype, but unlike the cataracts previously described by Shiels et al. (1998) in 2 distantly related branches of the English kindred originally reported by Renwick and Lawler (1963), this family had fine dust-like opacities that were most dense throughout the nucleus, as well as several cortical 'riders' present in the zonular region. </p><p>Polyakov et al. (2001) described a mother and son from a 3-generation Russian family segregating autosomal dominant zonular pulverulent cataract. The boy had onset of disease at 3 years of age; examination revealed bilateral nonhomogeneous pulverulent cataracts consisting of opaque particles of different sizes, most of them very small, unevenly distributed in a 5-mm disc in the center of the lens, as well as a slightly cloudy nonhomogeneous 2-mm area in the posterior pole region. Progression of the disease was symmetrical in both eyes. His mother had a similar phenotype. </p><p>Willoughby et al. (2003) reported a 4-generation Iranian family segregating autosomal dominant progressive congenital nuclear cataract. Affected family members had bilateral congenital cataracts that progressed and required surgery in the second and third decades due to dense fetal/embryonal nuclear cataract. No other systemic or ocular defects were present, including microcornea or microphthalmia. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a kindred known as 'Ev.' with zonular pulverulent cataract, previously described by Nettleship (1909), Renwick and Lawler (1963) demonstrated linkage with the Duffy blood group, which was later mapped to chromosome 1q21-q22 (see 110700). Renwick (1970) discussed the possibility that some other forms of dominant cataract might be linked with Duffy. A morphologically identical cataract was described by Hammerstein and Scholt (1973) who in their kindred found no linkage with Duffy. </p><p>In a family with zonular pulverulent cataract with fine, diffuse cortical opacities and incomplete cortical 'riders' similar to those described by Nettleship (1909), Conneally et al. (1978) found linkage to 1qh (lod of 2.7 at a recombination fraction of 0.0); no linkage to 1q was found in several other families with cataract. </p>
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</span>
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<div>
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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>Renwick and Lawler (1963) demonstrated that the locus for cataract in the English family originally reported by Nettleship (1909) cosegregated in an autosomal dominant manner with the Duffy blood group locus. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 2 distantly related branches of an 8-generation English kindred known as 'Ev.' with zonular pulverulent cataract, in which Renwick and Lawler (1963) demonstrated linkage to the Duffy blood group, Shiels et al. (1997) and Shiels et al. (1998) found evidence of linkage to the region of chromosome 1q where the GJA8 gene (600897) is located. Sequencing of the entire protein coding region of the GJA8 gene demonstrated a C-to-T transition (600897.0001) that created a novel MnlI restriction enzyme site. Restriction analysis confirmed that this change was present only in affected members of the pedigree and was not detectable in 50 unrelated normal chromosomes. </p><p>Hejtmancik (1998) presented a table of 9 loci, including this one, which had been implicated in nonsyndromal cataract and mapped to specific chromosomal sites. Eight animal models of cataract in which molecular defects had been identified were also tabulated. </p><p>Berry et al. (1999) studied 10 affected and 5 unaffected members of a family of Pakistani origin segregating autosomal dominant congenital nonprogressive zonular nuclear pulverulent cataract and found linkage to the CZP locus; analysis of the GJA8 gene revealed heterozygosity for a missense mutation (E48K; 600897.0002) in affected individuals that was not found in 100 ethnically matched control chromosomes. </p><p>In a mother and son from a 3-generation Russian family with zonular pulverulent cataract, Polyakov et al. (2001) identified heterozygosity for a missense mutation in the GJA8 gene (I247M; 600897.0003) that was not found in unaffected family members or 25 unrelated controls. </p><p>In a 4-generation Iranian family segregating autosomal dominant progressive congenital nuclear cataract, Willoughby et al. (2003) identified heterozygosity for a missense mutation in the GJA8 gene (R23T; 600897.0004). </p><p>Devi and Vijayalakshmi (2006) analyzed the GJA8 gene in 60 unrelated Indian patients with congenital or early childhood cataract, and identified 2 different missense mutations (600897.0005 and 600897.0006, respectively) in 2 probands from families with cataract and microcornea, variably associated with myopia. One proband had a total cataract and the other had a posterior subcapsular cataract. </p><p>In 10 Danish families segregating autosomal dominant developmental cataract and microcornea, Hansen et al. (2007) analyzed 9 candidate genes and identified 5 families with heterozygous mutations, 3 of which were in the CRYAA gene (123580.0007-123580.0009), 1 in the GJA8 gene (600897.0008), and 1 in the CRYGD gene (123690.0008). Corneal diameters varied between 8 and 10 mm. Nystagmus was present in some families and absent in others, depending primarily on the degree of visual impairment during the first months of life. Cataract phenotypes varied, but most cataracts had a clear peripheral zone. In some patients, cataract progression during the first years of life was noted. In the family with the GJA8 mutation, the cataract was described as a star-shaped nuclear opacity with a whitish central core. </p><p>Arora et al. (2008) sequenced the GJA8 gene in 150 families with inherited cataract and identified heterozygosity for a missense mutation (600897.0007) in a 2-generation Caucasian family segregating autosomal dominant congenital nuclear pulverulent cataract. He et al. (2011) identified the same mutation in affected members of a 6-generation Chinese family segregating nuclear cataract as well as in 1 unaffected member of the family, suggesting incomplete penetrance. </p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Chung et al. (2007) demonstrated that transgenic expression of Cx50 in mice led to cataracts associated with formation of cytoplasmic vesicles containing Cx50 and decreased or slowed epithelial differentiation without major alterations in the distribution of other integral membrane or membrane-associated proteins or the integrity/solubility of crystallins. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</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>Pulverulent cataract was the first inherited disease to be linked to a human autosome: the linkage to Duffy was demonstrated by Renwick and Lawler (1963) and the location of the Duffy locus (110700) on 1q was established by Donahue et al. (1968). </p><p>Harman (1909) described a 5-generation nonconsanguineous family in which 19 members had isolated congenital cataract. The author noted that in many cases the opacities were quite small, close to the nuclear region, and had a shape suggesting a disturbance in the union of the anterior ends of the lens fibers as they grew forward. Harman (1910) reported a series of 8 nonconsanguineous pedigrees with various forms of congenital cataract (lamellar, coralliform, discoid).</p><p>Smith (1910) reported 26 cases of cataract in 4 generations.</p><p>Vogt (1931) and Weber (1940) documented autosomal dominant inheritance of nuclear diffuse nonprogressive cataract.</p><p>Meissner (1933) reported 22 cases of congenital cataract in 6 generations of 1 family and 13 cases in 5 generations in a second. Three generations were affected in the family reported by Jahns (1938).</p><p>Gruber (1945) described 6 cases of membranous cataract in 4 generations. This should be considered a total cataract that has undergone regression or resorption. </p><p>Lee and Benedict (1950) described 63 cases of cataract in 6 generations.</p><p>Brown (1924) and Parrow (1955) reported pedigrees with autosomal dominant inheritance of nuclear total cataract. </p><p>Transmission of floriform cataract was recorded through 4 generations by Doggart (1957) and through 5 generations by Tosch (1958). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Arora, A., Minogue, P. J., Liu, X., Addison, P. K., Russel-Eggitt, I., Webster, A. R., Hunt, D. M., Ebihara, L., Beyer, E. C., Berthoud, V. M., Moore, A. T.
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<strong>A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.</strong>
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J. Med. Genet. 45: 155-160, 2008.
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[PubMed: 18006672]
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[Full Text: https://doi.org/10.1136/jmg.2007.051029]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Berry, V., Mackay, D., Khaliq, S., Francis, P. J., Hameed, A., Anwar, K., Mehdi, S. Q., Newbold, R. J., Ionides, A., Shiels, A., Moore, T., Bhattacharya, S. S.
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<strong>Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin.</strong>
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Hum. Genet. 105: 168-170, 1999.
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[PubMed: 10480374]
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[Full Text: https://doi.org/10.1007/s004399900094]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Brown, A. L.
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<strong>Hereditary cataract.</strong>
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Am. J. Ophthal. 7: 36-38, 1924.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Chung, J., Berthoud, V. M., Novak, L., Zoltoski, R., Heilbrunn, B., Minogue, P. J., Liu, X., Ebihara, L., Kuszak, J., Beyer, E. B.
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<strong>Transgenic overexpression of connexin-50 induces cataracts.</strong>
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Exp. Eye Res. 84: 513-528, 2007.
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[PubMed: 17217947]
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[Full Text: https://doi.org/10.1016/j.exer.2006.11.004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Conneally, P. M., Wilson, A. F., Merritt, A. D., Helveston, E. M., Palmer, C. G., Wang, L. V.
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<strong>Confirmation of genetic heterogeneity in autosomal dominant forms of congenital cataracts from linkage studies.</strong>
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Cytogenet. Cell Genet. 22: 295-297, 1978.
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[PubMed: 752489]
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[Full Text: https://doi.org/10.1159/000130957]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Crews, S. J., Bundey, S. E.
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<strong>Is there an X-linked form of congenital cataracts? (Letter)</strong>
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Clin. Genet. 21: 351-353, 1982.
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[PubMed: 7116682]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1982.tb01384.x]
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</p>
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<li>
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<p class="mim-text-font">
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Devi, R. R., Vijayalakshmi, P.
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<strong>Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.</strong>
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Molec. Vis. 12: 190-195, 2006.
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[PubMed: 16604058]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Doggart, J. H.
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<strong>Congenital cataract.</strong>
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Trans. Ophthal. Soc. U.K. 77: 31-37, 1957.
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[PubMed: 13530096]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Donahue, R. P., Bias, W. B., Renwick, J. H., McKusick, V. A.
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<strong>Probable assignment of the Duffy blood group locus to chromosome 1 in man.</strong>
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Proc. Nat. Acad. Sci. 61: 949-955, 1968.
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[PubMed: 5246559]
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[Full Text: https://doi.org/10.1073/pnas.61.3.949]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gruber, M.
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<strong>Ueber primaere familiaere Linsendysplasie.</strong>
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Ophthalmologica 110: 60-73, 1945.
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[PubMed: 21010647]
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[Full Text: https://doi.org/10.1159/000300260]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hammerstein, W., Scholt, W.
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<strong>Familiaere Form einer 'Cataracta centralis': klinisch-genetische Studie mit Koppelungsdaten.</strong>
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Graefe Arch. Klin. Exp. Ophthal. 189: 9-19, 1973.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hansen, L., Yao, W., Eiberg, H., Kjaer, K. W., Baggersen, K., Hejtmancik, J. F., Rosenberg, T.
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<strong>Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.</strong>
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Invest. Ophthal. Vis. Sci. 48: 3937-3944, 2007.
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[PubMed: 17724170]
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[Full Text: https://doi.org/10.1167/iovs.07-0013]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Harman, N. B.
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<strong>Ten pedigrees of congenital and infantile cataract; lamellar, coralliform, discoid, and posterior polar with microphthalmia.</strong>
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Trans. Ophthal. Soc. U.K. 30: 251-274, 1910.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Harman, N. B.
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<strong>Congenital cataract, a pedigree of five generations.</strong>
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Trans. Ophthal. Soc. U.K. 29: 101-108, 1909.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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He, W., Li, X., Chen, J., Xu, L., Zhang, F., Dai, Q., Cui, H., Wang, D.-M., Yu, J., Hu, S., Lu, S.
|
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<strong>Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.</strong>
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|
Ophthalmic Genet. 32: 48-53, 2011.
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[PubMed: 21174522]
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[Full Text: https://doi.org/10.3109/13816810.2010.535886]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Hejtmancik, J. F.
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<strong>The genetics of cataract: our vision becomes clearer. (Editorial)</strong>
|
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Am. J. Hum. Genet. 62: 520-525, 1998.
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[PubMed: 9497271]
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[Full Text: https://doi.org/10.1086/301774]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jahns, H.
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<strong>Angeborener Star in drei Generationen.</strong>
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Klin. Monatsbl. Augenheilkd. 100: 481-482, 1938.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lee, J. B., Benedict, W. L.
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<strong>Hereditary nuclear cataract.</strong>
|
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Arch. Ophthal. 44: 643-650, 1950.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Meissner, M.
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<strong>Augenaerztliches aus dem Blindeninstitut.</strong>
|
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Z. Augenheilkd. 80: 48-58, 1933.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Nettleship, E.
|
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<strong>Seven new pedigrees of hereditary cataract.</strong>
|
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Trans. Ophthal. Soc. U.K. 29: 188-211, 1909.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Parrow, R. D.
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<strong>Hereditary cataract in two families.</strong>
|
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Acta Paediat. 44: 460-464, 1955.
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[PubMed: 13292280]
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[Full Text: https://doi.org/10.1111/j.1651-2227.1955.tb04268.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Polyakov, A. V., Shagina I. A., Khlebnikova, O. V., Evgrafov, O. V.
|
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<strong>Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. (Letter)</strong>
|
|
Clin. Genet. 60: 476-478, 2001.
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[PubMed: 11846744]
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[Full Text: https://doi.org/10.1034/j.1399-0004.2001.600614.x]
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</p>
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Renwick, J. H., Lawler, S. D.
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<strong>Probable linkage between a congenital cataract locus and the Duffy blood group locus.</strong>
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Ann. Hum. Genet. 27: 67-84, 1963.
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Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S.
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<strong>A missense mutation in the GJA8 gene underlies autosomal dominant cataract on human chromosome 1q. (Abstract)</strong>
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Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S.
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<strong>A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q.</strong>
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Am. J. Hum. Genet. 62: 526-532, 1998.
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Tosch, C.
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<strong>Beitrag zur Stammbaumforschung der Cataracta floriformis.</strong>
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Weber, E.
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<strong>Weitere Untersuchungen ueber den kongenitalen, vererbten Kernstar (Cataracta nuclearis diffusa congenita hereditaria Vogt).</strong>
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Willoughby, C. E., Arab, S., Gandhi, R., Zeinali, S., Arab, S., Luk, D., Billingsley, G., Munier, F. L., Heon, E.
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<strong>A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.</strong>
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Marla J. F. O'Neill - updated : 10/21/2013<br>Marla J. F. O'Neill - updated : 4/26/2013<br>Jane Kelly - updated : 4/16/2008<br>Marla J. F. O'Neill - updated : 11/19/2007<br>Victor A. McKusick - updated : 5/7/1998<br>Victor A. McKusick - updated : 10/23/1997
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Victor A. McKusick : 6/4/1986
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carol : 08/07/2014<br>mcolton : 8/7/2014<br>mcolton : 8/7/2014<br>carol : 10/22/2013<br>carol : 10/21/2013<br>carol : 7/19/2013<br>carol : 5/9/2013<br>carol : 4/26/2013<br>carol : 4/26/2013<br>carol : 8/28/2012<br>carol : 8/27/2012<br>terry : 3/21/2012<br>alopez : 12/8/2010<br>carol : 4/16/2008<br>carol : 11/19/2007<br>terry : 11/16/2007<br>carol : 10/15/2002<br>alopez : 8/19/2002<br>mgross : 11/22/1999<br>alopez : 5/13/1998<br>terry : 5/7/1998<br>terry : 10/28/1997<br>alopez : 10/27/1997<br>terry : 10/24/1997<br>terry : 10/23/1997<br>terry : 6/23/1997<br>terry : 8/24/1994<br>davew : 6/27/1994<br>mimadm : 6/25/1994<br>warfield : 4/7/1994<br>carol : 10/21/1993<br>carol : 1/8/1993
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