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Entry
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- #225100 - ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2
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- OMIM
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<p>
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<span class="h4">#225100</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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<li role="presentation">
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<a href="/clinicalSynopsis/225100"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=486&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK84111/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/2459" 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://medlineplus.gov/genetics/condition/isolated-ectopia-lentis" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=225100[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1885" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<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:0111149" 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/225100" 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/OMIA002535/" 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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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 1885<br />
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<strong>DO:</strong> 0111149<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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225100
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/1/1071?start=-3&limit=10&highlight=1071">
|
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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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Ectopia lentis, isolated, autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/225100"> 225100 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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ADAMTSL4
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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/610113"> 610113 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/225100" 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="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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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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- Ectopia lentis, uncomplicated <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550308&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550308</a>]</span><br />
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- Caused by mutation in the ADAMTS-like 4 gene (ADAMTSL4, <a href="/entry/610113#0001">610113.0001</a>)<br />
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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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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive isolated ectopia lentis-2 (ECTOL2) is caused by homozygous or compound heterozygous mutation in the ADAMTSL4 gene (<a href="/entry/610113">610113</a>) on chromosome 1q21.</p><p>Autosomal recessive ectopia lentis in association with ectopia pupillae (<a href="/entry/225200">225200</a>) is also caused by mutation in the ADAMTSL4 gene.</p>
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<p>Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (<a href="#6" class="mim-tip-reference" title="Greene, V. B., Stoetzel, C., Pelletier, V., Perdomo-Trujillo, Y., Liebermann, L., Marion, V., De Korvin, H., Boileau, C., Dufier, J. L., Dollfus, H. <strong>Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.</strong> Ophthal. Genet. 31: 47-51, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20141359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20141359</a>] [<a href="https://doi.org/10.3109/13816810903567604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20141359">Greene et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20141359" 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>An autosomal dominant form of isolated ectopia lentis (ECTOL1; <a href="/entry/129600">129600</a>) is caused by mutation in the FBN1 gene (<a href="/entry/134797">134797</a>).</p><p>Ectopia lentis is a hallmark of several well-known syndromes, e.g., Marfan syndrome (<a href="/entry/154700">154700</a>), Weill-Marchesani syndrome (see <a href="/entry/277600">277600</a>), and homocystinuria (<a href="/entry/236200">236200</a>).</p>
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<p><a href="#2" class="mim-tip-reference" title="Al-Salem, M. <strong>Autosomal recessive ectopia lentis in two Arab family pedigrees.</strong> Ophthalmic Paediat. Genet. 11: 123-127, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2377351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2377351</a>] [<a href="https://doi.org/10.3109/13816819009012957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2377351">Al-Salem (1990)</a> described 2 large consanguineous Arab families of Iraqi and Jordanian origin, respectively, with bilateral isolated ectopia lentis. The condition was generally discovered at school age (5 to 6 years). All patients in both families had normal clear corneas and deep anterior chambers with tremulous irides. There were no areas of iris atrophy, pupillary abnormalities, or iris transillumination in any of the 18 patients examined or their relatives. The subluxated lenses showed variation in their direction from 1 patient to another, but temporal displacement was the most common direction encountered. Refraction showed myopic astigmatism; all patients had normal intraocular pressures and axial lengths. Systemic examination revealed no arachnodactyly, joint hyperextensibility, scoliosis, or cardiac anomalies, and span-to-height measurements were normal in all patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2377351" 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="Greene, V. B., Stoetzel, C., Pelletier, V., Perdomo-Trujillo, Y., Liebermann, L., Marion, V., De Korvin, H., Boileau, C., Dufier, J. L., Dollfus, H. <strong>Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.</strong> Ophthal. Genet. 31: 47-51, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20141359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20141359</a>] [<a href="https://doi.org/10.3109/13816810903567604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20141359">Greene et al. (2010)</a> reported 2 Turkish brothers, born of consanguineous parents, who had isolated ectopia lentis. The proband presented at 3.8 years of age with bilateral inferonasal ectopia lentis and reduced visual acuity; endocapsular lensectomies resulted in bilateral visual acuity of 20/25. His 2-year-old brother, who had classic phenylketonuria discovered upon routine newborn screening, presented at age 11 months with bilateral ectopia lentis. Slit-lamp examination in the younger brother revealed posterior synechiae between the lens and the iris, which were believed to be the result of lens dislocation, as there were no signs of or history of uveitis. The parents had normal eye examinations, and physical examination in both boys and their parents ruled out dysmorphic features or musculoskeletal anomalies such as arachnodactyly, scoliosis, or hyperextensibility. In addition, homocystinuria was excluded in the 2 boys. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20141359" 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="#7" class="mim-tip-reference" title="McKusick, V. A. <strong>Primordial dwarfism and ectopia lentis.</strong> Am. J. Hum. Genet. 7: 189-198, 1955.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14388006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14388006</a>]" pmid="14388006">McKusick (1955)</a> described a consanguineous family in which 4 of 9 sibs were affected with primordial dwarfism and 4 with ectopia lentis, both of which appeared to be inherited as independent autosomal recessive traits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14388006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Ruiz, C., Rivas, F., Villar-Calvo, V. M., Serrano-Lucas, J. I., Cantu, J. M. <strong>Familial simple ectopia lentis: a probable autosomal recessive form.</strong> Ophthalmic Paediat. Genet. 7: 81-84, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3491351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3491351</a>] [<a href="https://doi.org/10.3109/13816818609076113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3491351">Ruiz et al. (1986)</a> reported 3 sibs with an apparently autosomal recessive form of isolated ectopia lentis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3491351" 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="Ahram, D., Sato, T. S., Kohilan, A., Tayeh, M., Chen, S., Leal, S., Al-Salem, M., El-Shanti, H. <strong>A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.</strong> Am. J. Hum. Genet. 84: 274-278, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19200529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19200529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19200529[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.01.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19200529">Ahram et al. (2009)</a> confirmed autosomal recessive inheritance of isolated ectopia lentis in a family originally reported by <a href="#2" class="mim-tip-reference" title="Al-Salem, M. <strong>Autosomal recessive ectopia lentis in two Arab family pedigrees.</strong> Ophthalmic Paediat. Genet. 11: 123-127, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2377351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2377351</a>] [<a href="https://doi.org/10.3109/13816819009012957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2377351">Al-Salem (1990)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19200529+2377351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a large consanguineous Arab family of Jordanian origin with isolated ectopia lentis, originally reported by <a href="#2" class="mim-tip-reference" title="Al-Salem, M. <strong>Autosomal recessive ectopia lentis in two Arab family pedigrees.</strong> Ophthalmic Paediat. Genet. 11: 123-127, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2377351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2377351</a>] [<a href="https://doi.org/10.3109/13816819009012957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2377351">Al-Salem (1990)</a>, <a href="#1" class="mim-tip-reference" title="Ahram, D., Sato, T. S., Kohilan, A., Tayeh, M., Chen, S., Leal, S., Al-Salem, M., El-Shanti, H. <strong>A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.</strong> Am. J. Hum. Genet. 84: 274-278, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19200529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19200529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19200529[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.01.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19200529">Ahram et al. (2009)</a> performed genomewide linkage analysis and obtained a maximum multipoint lod score of 4.4 for marker D1S534 in the pericentromeric region on chromosome 1p13.2-q21.1. Fine mapping defined a 35-Mb critical region between markers D1S1675 and D1S498. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19200529+2377351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a large consanguineous Arab family of Jordanian origin with isolated ectopia lentis, originally reported by <a href="#2" class="mim-tip-reference" title="Al-Salem, M. <strong>Autosomal recessive ectopia lentis in two Arab family pedigrees.</strong> Ophthalmic Paediat. Genet. 11: 123-127, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2377351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2377351</a>] [<a href="https://doi.org/10.3109/13816819009012957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2377351">Al-Salem (1990)</a>, <a href="#1" class="mim-tip-reference" title="Ahram, D., Sato, T. S., Kohilan, A., Tayeh, M., Chen, S., Leal, S., Al-Salem, M., El-Shanti, H. <strong>A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.</strong> Am. J. Hum. Genet. 84: 274-278, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19200529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19200529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19200529[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.01.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19200529">Ahram et al. (2009)</a> identified homozygosity for a nonsense mutation in the ADAMTSL4 gene (<a href="/entry/610113#0001">610113.0001</a>) that segregated with the phenotype and was not found in 380 ethnically matched control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19200529+2377351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Turkish brothers with isolated ectopia lentis who were negative for mutation in the FBN1 gene (<a href="/entry/134797">134797</a>), <a href="#6" class="mim-tip-reference" title="Greene, V. B., Stoetzel, C., Pelletier, V., Perdomo-Trujillo, Y., Liebermann, L., Marion, V., De Korvin, H., Boileau, C., Dufier, J. L., Dollfus, H. <strong>Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.</strong> Ophthal. Genet. 31: 47-51, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20141359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20141359</a>] [<a href="https://doi.org/10.3109/13816810903567604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20141359">Greene et al. (2010)</a> identified homozygosity for a splice site mutation in the ADAMTSL4 gene (<a href="/entry/610113#0002">610113.0002</a>) that was present in heterozygosity in their unaffected parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20141359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 6 unrelated patients with FBN1-negative ectopia lentis, including 1 who had ectopia lentis et pupillae (<a href="/entry/225200">225200</a>), <a href="#3" class="mim-tip-reference" title="Aragon-Martin, J. A., Ahnood, D., Charteris, D. G., Saggar, A., Nischal, K. K., Comeglio, P., Chandra, A., Child, A. H., Arno, G. <strong>Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.</strong> Hum. Mutat. 31: E1622-E1631, 2010. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20564469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20564469</a>] [<a href="https://doi.org/10.1002/humu.21305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20564469">Aragon-Martin et al. (2010)</a> identified homozygous or compound heterozygous mutations in the ADAMTSL4 gene (see, e.g., <a href="/entry/610113#0003">610113.0003</a>-<a href="/entry/610113#0005">610113.0005</a>), including a 20-bp deletion (<a href="/entry/610113#0003">610113.0003</a>) reported by <a href="#5" class="mim-tip-reference" title="Christensen, A. E., Fiskerstrand, T., Knappskog, P. M., Boman, H., Rodahl, E. <strong>A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.</strong> Invest. Ophthal. Vis. Sci. 51: 6369-6373, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20702823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20702823</a>] [<a href="https://doi.org/10.1167/iovs.10-5597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20702823">Christensen et al. (2010)</a> as a founder mutation in Norwegian families with ectopia lentis et pupillae. In 4 families where DNA was available, the unaffected parents were shown to be heterozygous for the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20564469+20702823" 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 8 patients from 7 German families with isolated ectopia lentis, <a href="#8" class="mim-tip-reference" title="Neuhann, T. M., Artelt, J., Neuhann, T. F., Tinschert, S., Rump, A. <strong>A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.</strong> Invest. Ophthal. Vis. Sci. 52: 695-700, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21051722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21051722</a>] [<a href="https://doi.org/10.1167/iovs.10-5740" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21051722">Neuhann et al. (2011)</a> identified homozygosity for the same 20-bp deletion in the ADAMTSL4 gene (<a href="/entry/610113#0003">610113.0003</a>). The mutation was found in heterozygosity in unaffected parents and sibs, as well as in 2 of 360 controls. A 4-SNP haplotype was consistently associated with the mutation, suggestive of a founder mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21051722" 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="Chandra, A., Aragon-Martin, J. A., Hughes, K., Gati, S., Reddy, M. A., Deshpande, C., Cormack, G., Child, A. H., Charteris, D. G., Arno, G. <strong>A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.</strong> Invest. Ophthal. Vis. Sci. 53: 4889-4896, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22736615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22736615</a>] [<a href="https://doi.org/10.1167/iovs.12-9874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22736615">Chandra et al. (2012)</a> studied 16 patients with isolated ectopia lentis and identified homozygous or compound heterozygous mutations in ADAMTSL4 in 8 patients (see, e.g., <a href="/entry/610113#0003">610113.0003</a>) and heterozygous mutations in the FBN1 gene in 4 patients. No mutations were identified in the remaining 4 patients. The median age of diagnosis of ectopia lentis was 35 years in patients with FBN1 mutations versus 2 years in patients with ADAMTSL4 mutations (p less than 0.01). Mean axial length was 22.74 mm in FBN1 patients compared to 27.54 mm in ADAMTSL4 patients (p less than 0.01). Other ophthalmic features, including corneal thickness and power, foveal thickness, visual acuity, and direction of lens displacement, were similar for both groups. <a href="#4" class="mim-tip-reference" title="Chandra, A., Aragon-Martin, J. A., Hughes, K., Gati, S., Reddy, M. A., Deshpande, C., Cormack, G., Child, A. H., Charteris, D. G., Arno, G. <strong>A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.</strong> Invest. Ophthal. Vis. Sci. 53: 4889-4896, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22736615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22736615</a>] [<a href="https://doi.org/10.1167/iovs.12-9874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22736615">Chandra et al. (2012)</a> concluded that ADAMTSL4 mutations appear to cause earlier manifestation of ectopia lentis and are associated with increased axial length compared to mutations in FBN1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22736615" 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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Ahram, D., Sato, T. S., Kohilan, A., Tayeh, M., Chen, S., Leal, S., Al-Salem, M., El-Shanti, H.
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<strong>A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.</strong>
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Am. J. Hum. Genet. 84: 274-278, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19200529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19200529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19200529[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19200529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2009.01.007" target="_blank">Full Text</a>]
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Al-Salem, M.
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<strong>Autosomal recessive ectopia lentis in two Arab family pedigrees.</strong>
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Ophthalmic Paediat. Genet. 11: 123-127, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2377351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2377351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2377351" 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/10.3109/13816819009012957" target="_blank">Full Text</a>]
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Aragon-Martin, J. A., Ahnood, D., Charteris, D. G., Saggar, A., Nischal, K. K., Comeglio, P., Chandra, A., Child, A. H., Arno, G.
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<strong>Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.</strong>
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Hum. Mutat. 31: E1622-E1631, 2010. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20564469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20564469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20564469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.21305" target="_blank">Full Text</a>]
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Chandra, A., Aragon-Martin, J. A., Hughes, K., Gati, S., Reddy, M. A., Deshpande, C., Cormack, G., Child, A. H., Charteris, D. G., Arno, G.
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<strong>A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.</strong>
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Invest. Ophthal. Vis. Sci. 53: 4889-4896, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22736615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22736615</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22736615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Christensen, A. E., Fiskerstrand, T., Knappskog, P. M., Boman, H., Rodahl, E.
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<strong>A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.</strong>
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Invest. Ophthal. Vis. Sci. 51: 6369-6373, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20702823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20702823</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20702823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1167/iovs.10-5597" target="_blank">Full Text</a>]
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Greene, V. B., Stoetzel, C., Pelletier, V., Perdomo-Trujillo, Y., Liebermann, L., Marion, V., De Korvin, H., Boileau, C., Dufier, J. L., Dollfus, H.
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<strong>Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.</strong>
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Ophthal. Genet. 31: 47-51, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20141359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20141359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20141359" 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/10.3109/13816810903567604" target="_blank">Full Text</a>]
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McKusick, V. A.
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<strong>Primordial dwarfism and ectopia lentis.</strong>
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Am. J. Hum. Genet. 7: 189-198, 1955.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14388006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14388006</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14388006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Neuhann, T. M., Artelt, J., Neuhann, T. F., Tinschert, S., Rump, A.
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<strong>A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.</strong>
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Invest. Ophthal. Vis. Sci. 52: 695-700, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21051722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21051722</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21051722" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1167/iovs.10-5740" target="_blank">Full Text</a>]
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Ruiz, C., Rivas, F., Villar-Calvo, V. M., Serrano-Lucas, J. I., Cantu, J. M.
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<strong>Familial simple ectopia lentis: a probable autosomal recessive form.</strong>
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Ophthalmic Paediat. Genet. 7: 81-84, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3491351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3491351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3491351" 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/10.3109/13816818609076113" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 1/25/2013
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Marla J. F. O'Neill - updated : 3/26/2009<br>Victor A. McKusick - updated : 4/14/2004
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Victor A. McKusick : 6/3/1986
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carol : 02/22/2017
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tpirozzi : 07/08/2013<br>tpirozzi : 7/8/2013<br>carol : 1/25/2013<br>carol : 1/25/2013<br>joanna : 8/16/2012<br>carol : 5/5/2010<br>terry : 6/4/2009<br>wwang : 3/30/2009<br>terry : 3/26/2009<br>alopez : 4/19/2004<br>alopez : 4/19/2004<br>terry : 4/14/2004<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>root : 1/25/1988
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<strong>#</strong> 225100
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ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2
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<strong>ORPHA:</strong> 1885;
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<strong>DO:</strong> 0111149;
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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1q21.2
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Ectopia lentis, isolated, autosomal recessive
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225100
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Autosomal recessive
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3
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ADAMTSL4
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610113
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive isolated ectopia lentis-2 (ECTOL2) is caused by homozygous or compound heterozygous mutation in the ADAMTSL4 gene (610113) on chromosome 1q21.</p><p>Autosomal recessive ectopia lentis in association with ectopia pupillae (225200) is also caused by mutation in the ADAMTSL4 gene.</p>
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<p>Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (Greene et al., 2010). </p><p>An autosomal dominant form of isolated ectopia lentis (ECTOL1; 129600) is caused by mutation in the FBN1 gene (134797).</p><p>Ectopia lentis is a hallmark of several well-known syndromes, e.g., Marfan syndrome (154700), Weill-Marchesani syndrome (see 277600), and homocystinuria (236200).</p>
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<p>Al-Salem (1990) described 2 large consanguineous Arab families of Iraqi and Jordanian origin, respectively, with bilateral isolated ectopia lentis. The condition was generally discovered at school age (5 to 6 years). All patients in both families had normal clear corneas and deep anterior chambers with tremulous irides. There were no areas of iris atrophy, pupillary abnormalities, or iris transillumination in any of the 18 patients examined or their relatives. The subluxated lenses showed variation in their direction from 1 patient to another, but temporal displacement was the most common direction encountered. Refraction showed myopic astigmatism; all patients had normal intraocular pressures and axial lengths. Systemic examination revealed no arachnodactyly, joint hyperextensibility, scoliosis, or cardiac anomalies, and span-to-height measurements were normal in all patients. </p><p>Greene et al. (2010) reported 2 Turkish brothers, born of consanguineous parents, who had isolated ectopia lentis. The proband presented at 3.8 years of age with bilateral inferonasal ectopia lentis and reduced visual acuity; endocapsular lensectomies resulted in bilateral visual acuity of 20/25. His 2-year-old brother, who had classic phenylketonuria discovered upon routine newborn screening, presented at age 11 months with bilateral ectopia lentis. Slit-lamp examination in the younger brother revealed posterior synechiae between the lens and the iris, which were believed to be the result of lens dislocation, as there were no signs of or history of uveitis. The parents had normal eye examinations, and physical examination in both boys and their parents ruled out dysmorphic features or musculoskeletal anomalies such as arachnodactyly, scoliosis, or hyperextensibility. In addition, homocystinuria was excluded in the 2 boys. </p>
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<strong>Inheritance</strong>
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<p>McKusick (1955) described a consanguineous family in which 4 of 9 sibs were affected with primordial dwarfism and 4 with ectopia lentis, both of which appeared to be inherited as independent autosomal recessive traits. </p><p>Ruiz et al. (1986) reported 3 sibs with an apparently autosomal recessive form of isolated ectopia lentis. </p><p>Ahram et al. (2009) confirmed autosomal recessive inheritance of isolated ectopia lentis in a family originally reported by Al-Salem (1990). </p>
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<strong>Mapping</strong>
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<p>In a large consanguineous Arab family of Jordanian origin with isolated ectopia lentis, originally reported by Al-Salem (1990), Ahram et al. (2009) performed genomewide linkage analysis and obtained a maximum multipoint lod score of 4.4 for marker D1S534 in the pericentromeric region on chromosome 1p13.2-q21.1. Fine mapping defined a 35-Mb critical region between markers D1S1675 and D1S498. </p>
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<strong>Molecular Genetics</strong>
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<p>In a large consanguineous Arab family of Jordanian origin with isolated ectopia lentis, originally reported by Al-Salem (1990), Ahram et al. (2009) identified homozygosity for a nonsense mutation in the ADAMTSL4 gene (610113.0001) that segregated with the phenotype and was not found in 380 ethnically matched control chromosomes. </p><p>In 2 Turkish brothers with isolated ectopia lentis who were negative for mutation in the FBN1 gene (134797), Greene et al. (2010) identified homozygosity for a splice site mutation in the ADAMTSL4 gene (610113.0002) that was present in heterozygosity in their unaffected parents. </p><p>In 6 unrelated patients with FBN1-negative ectopia lentis, including 1 who had ectopia lentis et pupillae (225200), Aragon-Martin et al. (2010) identified homozygous or compound heterozygous mutations in the ADAMTSL4 gene (see, e.g., 610113.0003-610113.0005), including a 20-bp deletion (610113.0003) reported by Christensen et al. (2010) as a founder mutation in Norwegian families with ectopia lentis et pupillae. In 4 families where DNA was available, the unaffected parents were shown to be heterozygous for the mutations. </p><p>In 8 patients from 7 German families with isolated ectopia lentis, Neuhann et al. (2011) identified homozygosity for the same 20-bp deletion in the ADAMTSL4 gene (610113.0003). The mutation was found in heterozygosity in unaffected parents and sibs, as well as in 2 of 360 controls. A 4-SNP haplotype was consistently associated with the mutation, suggestive of a founder mutation. </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Chandra et al. (2012) studied 16 patients with isolated ectopia lentis and identified homozygous or compound heterozygous mutations in ADAMTSL4 in 8 patients (see, e.g., 610113.0003) and heterozygous mutations in the FBN1 gene in 4 patients. No mutations were identified in the remaining 4 patients. The median age of diagnosis of ectopia lentis was 35 years in patients with FBN1 mutations versus 2 years in patients with ADAMTSL4 mutations (p less than 0.01). Mean axial length was 22.74 mm in FBN1 patients compared to 27.54 mm in ADAMTSL4 patients (p less than 0.01). Other ophthalmic features, including corneal thickness and power, foveal thickness, visual acuity, and direction of lens displacement, were similar for both groups. Chandra et al. (2012) concluded that ADAMTSL4 mutations appear to cause earlier manifestation of ectopia lentis and are associated with increased axial length compared to mutations in FBN1. </p>
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<strong>REFERENCES</strong>
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Ahram, D., Sato, T. S., Kohilan, A., Tayeh, M., Chen, S., Leal, S., Al-Salem, M., El-Shanti, H.
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<strong>A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.</strong>
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Am. J. Hum. Genet. 84: 274-278, 2009.
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[PubMed: 19200529]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.01.007]
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Al-Salem, M.
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<strong>Autosomal recessive ectopia lentis in two Arab family pedigrees.</strong>
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Ophthalmic Paediat. Genet. 11: 123-127, 1990.
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[PubMed: 2377351]
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[Full Text: https://doi.org/10.3109/13816819009012957]
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Aragon-Martin, J. A., Ahnood, D., Charteris, D. G., Saggar, A., Nischal, K. K., Comeglio, P., Chandra, A., Child, A. H., Arno, G.
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<strong>Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.</strong>
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Hum. Mutat. 31: E1622-E1631, 2010. Note: Electronic Article.
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[PubMed: 20564469]
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[Full Text: https://doi.org/10.1002/humu.21305]
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Chandra, A., Aragon-Martin, J. A., Hughes, K., Gati, S., Reddy, M. A., Deshpande, C., Cormack, G., Child, A. H., Charteris, D. G., Arno, G.
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<strong>A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.</strong>
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Invest. Ophthal. Vis. Sci. 53: 4889-4896, 2012.
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[PubMed: 22736615]
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[Full Text: https://doi.org/10.1167/iovs.12-9874]
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Christensen, A. E., Fiskerstrand, T., Knappskog, P. M., Boman, H., Rodahl, E.
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<strong>A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.</strong>
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Invest. Ophthal. Vis. Sci. 51: 6369-6373, 2010.
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[PubMed: 20702823]
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[Full Text: https://doi.org/10.1167/iovs.10-5597]
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Greene, V. B., Stoetzel, C., Pelletier, V., Perdomo-Trujillo, Y., Liebermann, L., Marion, V., De Korvin, H., Boileau, C., Dufier, J. L., Dollfus, H.
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<strong>Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.</strong>
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Ophthal. Genet. 31: 47-51, 2010.
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[PubMed: 20141359]
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[Full Text: https://doi.org/10.3109/13816810903567604]
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McKusick, V. A.
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<strong>Primordial dwarfism and ectopia lentis.</strong>
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Am. J. Hum. Genet. 7: 189-198, 1955.
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[PubMed: 14388006]
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Neuhann, T. M., Artelt, J., Neuhann, T. F., Tinschert, S., Rump, A.
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<strong>A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.</strong>
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Invest. Ophthal. Vis. Sci. 52: 695-700, 2011.
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[PubMed: 21051722]
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[Full Text: https://doi.org/10.1167/iovs.10-5740]
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Ruiz, C., Rivas, F., Villar-Calvo, V. M., Serrano-Lucas, J. I., Cantu, J. M.
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<strong>Familial simple ectopia lentis: a probable autosomal recessive form.</strong>
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Ophthalmic Paediat. Genet. 7: 81-84, 1986.
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[PubMed: 3491351]
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[Full Text: https://doi.org/10.3109/13816818609076113]
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Marla J. F. O'Neill - updated : 1/25/2013<br>Marla J. F. O'Neill - updated : 3/26/2009<br>Victor A. McKusick - updated : 4/14/2004
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Victor A. McKusick : 6/3/1986
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