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Entry
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- *610113 - ADAMTS-LIKE 4; ADAMTSL4
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- OMIM
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<p>
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<span class="h4">*610113</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/610113">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000143382;t=ENST00000271643" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=54507" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=610113" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000143382;t=ENST00000271643" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001288607,NM_001288608,NM_001378596,NM_019032,NM_025008,XM_011509644,XM_011509648,XM_011509649,XM_011509650,XM_011509651,XM_011509652,XM_017001506,XM_047422819,XM_047422820,XM_047422823,XM_047422824,XM_047422830,XM_047422832,XM_047422841,XM_047422842" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_019032" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=610113" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=18237&isoform_id=18237_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/ADAMTSL4" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/6102894,10441879,33341752,37181350,38016904,40037923,48734970,56788359,66267210,118573317,119573927,119573928,158259535,187954849,211828080,219518323,568384851,568384853,767909572,767909580,767909582,767909584,767909587,767909589,1034559302,1811715194,2217268296,2217268298,2217268301,2217268303,2217268306,2217268308,2217268312,2217268314,2462510248,2462510250,2462510252,2462510254,2462510256,2462510258,2462510260,2462510262,2462510264,2462510266,2462510268,2462510270,2462510272,2462510274,2462510276" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q6UY14" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=54507" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000143382;t=ENST00000271643" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=ADAMTSL4" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+54507" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/ADAMTSL4" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:54507" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/54507" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000271643.9&hgg_start=150549408&hgg_end=150560937&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/adamtsl4" 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=610113[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=610113[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000143382" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=ADAMTSL4" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=ADAMTSL4" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ADAMTSL4" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ADAMTSL4&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA134879921" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:19706" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0032252.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2389008" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/ADAMTSL4#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:2389008" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/54507/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://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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<div><a href="https://www.orthodb.org/?ncbi=54507" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070815-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=ADAMTSL4&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 419237004<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
610113
|
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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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ADAMTS-LIKE 4; ADAMTSL4
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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">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
THROMBOSPONDIN REPEAT-CONTAINING 1; TSRC1
|
|
</span>
|
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</h4>
|
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</div>
|
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</div>
|
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ADAMTSL4" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ADAMTSL4</a></em></strong>
|
|
</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/1/1071?start=-3&limit=10&highlight=1071">1q21.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:150549408-150560937&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:150,549,408-150,560,937</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
|
|
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=225200,225100" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1071?start=-3&limit=10&highlight=1071">
|
|
1q21.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Ectopia lentis et pupillae
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/225200"> 225200 </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>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Ectopia lentis, isolated, autosomal recessive
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/225100"> 225100 </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>
|
|
</tr>
|
|
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|
|
|
|
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|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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|
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<div>
|
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<p>ADAMTSL4 belongs to a family of proteins that share significant similarity with the ADAMTS family of metalloprotease (see ADAMTS1; <a href="/entry/605174">605174</a>). However, ADAMTS-like proteins lack the zinc-binding metalloprotease domain of ADAMTS proteins and are therefore secreted glycoproteins rather than enzymes (summary by <a href="#8" class="mim-tip-reference" title="Gabriel, L. A. R., Wang, L. W., Bader, H., Ho, J. C., Majors, A. K., Hollyfield, J. G., Traboulsi, E. I., Apte, S. S. <strong>ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis.</strong> Invest. Ophthal. Vis. Sci. 53: 461-469, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21989719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21989719</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21989719[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1167/iovs.10-5955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21989719">Gabriel et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21989719" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By database analysis and PCR analysis of mouse brain, <a href="#4" class="mim-tip-reference" title="Buchner, D. A., Meisler, M. H. <strong>TSRC1, a widely expressed gene containing seven thrombospondin type I repeats.</strong> Gene 307: 23-30, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12706885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12706885</a>] [<a href="https://doi.org/10.1016/s0378-1119(03)00423-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12706885">Buchner and Meisler (2003)</a> cloned Adamtsl4, which they called Tsrc1. By database searching with the mouse Adamtsl4 sequence, they identified human ADAMTSL4. The deduced human and mouse proteins contain 1,074 and 1,036 amino acids, respectively, and share 76% sequence identity. The proteins contain 7 predicted thrombospondin type 1 (TSP1) repeats, 6 of which are clustered at the C-terminal end. The thrombospondin domains are most closely related to the ADAMTS (a disintegrin-like and metalloproteinase with thrombospondin type 1 repeats) subfamily. Northern blot analysis detected a 4.4-kb mouse Adamtsl4 transcript in muscle, brain, and other tissues; RT-PCR analysis confirmed expression in all fetal and adult tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12706885" 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> amplified first-strand cDNA from adult human tissue and found expression of ADAMTSL4 in colon, heart, leukocyte, liver, lung, skeletal muscle, spleen, testis, and placenta; expression was weaker in bone marrow, brain tissue, kidney, and pancreas. Expression studies in fetal tissue revealed strong expression in heart, kidney, liver, lung, and skeletal muscle, but weaker expression in brain and skin. <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'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using Western blot and immunohistochemical analyses, <a href="#8" class="mim-tip-reference" title="Gabriel, L. A. R., Wang, L. W., Bader, H., Ho, J. C., Majors, A. K., Hollyfield, J. G., Traboulsi, E. I., Apte, S. S. <strong>ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis.</strong> Invest. Ophthal. Vis. Sci. 53: 461-469, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21989719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21989719</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21989719[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1167/iovs.10-5955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21989719">Gabriel et al. (2012)</a> found that ADAMTSL4 was widely expressed in normal human eye and was associated with both cells and extracellular medium. Western blot analysis of conditioned medium from transfected HEK293F cells showed that ADAMTSL4 was secreted as a major N- and O-glycosylated species with an apparent molecular mass of 150 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21989719" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using in situ hybridization, <a href="#7" class="mim-tip-reference" title="Collin, G. B., Hubmacher, D., Charette, J. R., Hicks, W. L., Stone, L., Yu, M., Naggert, J. K., Krebs, M. P., Peachey, N. S., Apte, S. S., Nishina, P. M. <strong>Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.</strong> Hum. Molec. Genet. 24: 6958-6974, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26405179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26405179</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26405179[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/10.1093/hmg/ddv399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26405179">Collin et al. (2015)</a> found that Adamtsl4 was highly expressed in lens epithelium at the lens equator throughout mouse embryonic development and in adults. Adamtsl4 was more modestly expressed in other tissues of anterior and posterior eye segments, but not in the ciliary body. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26405179" 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="Buchner, D. A., Meisler, M. H. <strong>TSRC1, a widely expressed gene containing seven thrombospondin type I repeats.</strong> Gene 307: 23-30, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12706885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12706885</a>] [<a href="https://doi.org/10.1016/s0378-1119(03)00423-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12706885">Buchner and Meisler (2003)</a> determined that the ADAMTSL4 gene contains 17 coding exons and 2 untranslated exons and spans about 10 kb of genomic DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12706885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequence analysis, <a href="#4" class="mim-tip-reference" title="Buchner, D. A., Meisler, M. H. <strong>TSRC1, a widely expressed gene containing seven thrombospondin type I repeats.</strong> Gene 307: 23-30, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12706885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12706885</a>] [<a href="https://doi.org/10.1016/s0378-1119(03)00423-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12706885">Buchner and Meisler (2003)</a> mapped the human ADAMTSL4 gene to chromosome 1q21. They mapped the mouse Adamtsl4 gene in a region of syntenic homology on chromosome 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12706885" 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>Fibroblasts secrete fibrillin-1 (FBN1; <a href="/entry/134797">134797</a>) and deposit it into microfibrils after a period of confluence. <a href="#8" class="mim-tip-reference" title="Gabriel, L. A. R., Wang, L. W., Bader, H., Ho, J. C., Majors, A. K., Hollyfield, J. G., Traboulsi, E. I., Apte, S. S. <strong>ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis.</strong> Invest. Ophthal. Vis. Sci. 53: 461-469, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21989719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21989719</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21989719[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1167/iovs.10-5955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21989719">Gabriel et al. (2012)</a> showed that conditioned medium containing human ADAMTSL4 accelerated the deposition of Fbn1 into microfibrils by fetal bovine nunchal ligament fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21989719" 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 mapping to chromosome 1p13.2-q21.1 (ECTOL2; <a href="/entry/225100">225100</a>), 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="#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="#9" 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="#0002">610113.0002</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>In 10 affected individuals from 5 Norwegian families with ectopia lentis et pupillae (<a href="/entry/225200">225200</a>), <a href="#6" 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> identified homozygosity for a 20-bp deletion in the ADAMTSL4 gene (<a href="#0003">610113.0003</a>). There was evidence for a founder effect in this population. In 1 family, 1 of the 3 affected individuals had bilateral downward dislocation of the lenses but normally positioned pupils. <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'})"><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 patients with FBN1-negative ectopia lentis, including 1 who had ectopia lentis et pupillae, <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., Amo, G. <strong>Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.</strong> Hum. Mutat. 31: E1622, 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, including the 20-bp deletion reported by <a href="#6" 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> (see, e.g., <a href="#0003">610113.0003</a>-<a href="#0005">610113.0005</a>). <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="#10" 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 20-bp deletion in the ADAMTSL4 gene. 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><p><a href="#5" 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> identified mutations in the ADAMTSL4 gene in 8 Caucasian British probands with isolated ectopia lentis, including 6 who were homozygous for the 20-bp deletion and 1 who was compound heterozygous for the 20-bp deletion and a 1-bp deletion (<a href="#0006">610113.0006</a>). Another Caucasian British proband, who had ectopia lentis et pupillae, was found to be compound heterozygous for the 20-bp deletion and a 1-bp duplication in ADAMTSL4 (<a href="#0007">610113.0007</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'})"><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="Collin, G. B., Hubmacher, D., Charette, J. R., Hicks, W. L., Stone, L., Yu, M., Naggert, J. K., Krebs, M. P., Peachey, N. S., Apte, S. S., Nishina, P. M. <strong>Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.</strong> Hum. Molec. Genet. 24: 6958-6974, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26405179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26405179</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26405179[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/10.1093/hmg/ddv399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26405179">Collin et al. (2015)</a> reported tvrm267 mice, which were generated by N-ethyl-N-nitrosourea mutagenesis and harbor a gln609-to-ter (Q609X) nonsense mutation in the Adamtsl4 gene. Eyes of homozygous tvrm267 mice appeared normal at birth, but they developed age-dependent ectopia lentis due to ciliary zonule detachment from the lens capsule. Homozygous tyrm367 mice also showed age-dependent dedifferentiation of retinal pigment epithelial (RPE) cells, with downregulation of RPE-specific genes, including Lrat (<a href="/entry/604863">604863</a>), Rgr (<a href="/entry/600342">600342</a>), and Rpe65 (<a href="/entry/180069">180069</a>), and upregulation of Col18a1 (<a href="/entry/120328">120328</a>). Electroretinography confirmed RPE functional defects in homozygous tvrm267 mice. Some homozygous tvrm267 mice also showed increased axial length. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26405179" 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 affected members of a large consanguineous Arab family of Jordanian origin with isolated ectopia lentis (ECTOL2; <a href="/entry/225100">225100</a>), 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 1785T-G transversion in exon 11 of the ADAMTSL4 gene, resulting in a tyr595-to-ter (Y595X) substitution at an evolutionarily conserved residue, predicted to generate a truncated protein of 594 residues lacking 6 of the 7 TSP1 repeats. The mutation, which segregated with the phenotype in the family, 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>
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<p>In 2 Turkish boys with isolated ectopia lentis (ECTOL2; <a href="/entry/225100">225100</a>), born of consanguineous parents, <a href="#9" 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 -1G-A transition in intron 4 of the ADAMTSL4 gene that abolishes the splice acceptor site and creates a premature stop codon. Their unaffected parents were heterozygous for the mutation, which was not found in the SNP database and was not described as a physiologic splice variant in the Ensembl, UCSC, or Browser fast.db databases. <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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs199473693 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199473693;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs199473693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs199473693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 10 affected individuals from 5 Norwegian families with ectopia lentis et pupillae (<a href="/entry/225200">225200</a>), <a href="#6" 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> identified homozygosity for a 20-bp deletion (767_786del20) in the ADAMTSL4 gene, causing a frameshift predicted to result in a stop codon and premature termination 113 bp downstream. RT-PCR analysis of ADAMTSL4 mRNA confirmed the presence of a transcript truncated by 20 bp. Obligate heterozygotes had no ocular abnormalities. Homozygosity mapping in the 5 Norwegian families from Hordaland County in western Norway was compatible with a common ancestor 150 generations (4,000 years) earlier, and the mutation was found in heterozygosity in 3 of 190 local blood donors, corresponding to a prevalence for homozygosity of approximately 1:16,000 in this population. In 1 family, 1 of the 3 affected individuals had bilateral downward dislocation of the lenses but normally positioned pupils. <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'})"><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 15-year-old boy with isolated ectopia lentis (ECTOL2; <a href="/entry/252100">252100</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., Amo, G. <strong>Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.</strong> Hum. Mutat. 31: E1622, 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 homozygosity for the 20-bp deletion in exon 6 of the ADAMTSL4 gene. The 20-bp deletion was also identified in compound heterozygosity with an 11-bp deletion (826_836del11; <a href="#0004">610113.0004</a>) in ADAMTSL4 in 2 affected members of a Caucasian British family with ectopia lentis and in an 8-year-old Swedish boy with ectopia lentis et pupillae. <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'})"><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="#10" 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 20-bp deletion in the ADAMTSL4 gene, which they designated 759_778del20. 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><p>In 6 Caucasian British patients with isolated ectopia lentis, <a href="#5" 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> identified homozygosity for the ADAMTSL4 20-bp deletion (Gln256ProfsTer38). Two more Caucasian British patients, 1 with isolated ectopia lentis and 1 with ectopia lentis et pupillae, were found to be compound heterozygous for the 20-bp deletion and 2 different frameshift mutations: a 1-bp deletion (237delC, Pro80ArgfsTer53; <a href="#0006">610113.0006</a>) and a 1-bp duplication (2270dupG, Gly758TrpfsTer59; <a href="#0007">610113.0007</a>), respectively, in the ADAMTSL4 gene. <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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs794726688 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs794726688;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs794726688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs794726688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032755 OR RCV000032756 OR RCV003556094" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032755, RCV000032756, RCV003556094" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032755...</a>
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<p>For discussion of the 11-bp deletion in the ADAMTSL4 gene (826_836del11) that was found in compound heterozygous state in patients with isolated ectopia lentis (ECTOL2; <a href="/entry/252100">252100</a>) and in a patient with ectopia lentis et pupillae (<a href="/entry/225200">225200</a>) by <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., Amo, G. <strong>Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.</strong> Hum. Mutat. 31: E1622, 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>, see <a href="#0003">610113.0003</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'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs368482584 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs368482584;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs368482584?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs368482584" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs368482584" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032757 OR RCV001281006 OR RCV001731326 OR RCV003338388" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032757, RCV001281006, RCV001731326, RCV003338388" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032757...</a>
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<p>In 2 sibs from a Caucasian British family with autosomal recessive isolated ectopia lentis (ECTOL2; <a href="/entry/242100">242100</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., Amo, G. <strong>Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.</strong> Hum. Mutat. 31: E1622, 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 homozygosity for a 2008C-T transition in exon 12 of the ADAMTSL4 gene, resulting in an arg670-to-ter (R670X; <a href="#0004">610113.0004</a>) substitution. <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'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs794726689 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs794726689;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs794726689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs794726689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 1-bp deletion (237delC) in the ADAMTSL4 gene that was found in compound heterozygous state in a patient with isolated ectopia lentis (ECTOL2; <a href="/entry/252100">252100</a>) by <a href="#5" 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>, see <a href="#0003">610113.0003</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'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs747160538 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs747160538;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs747160538?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs747160538" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs747160538" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032759 OR RCV000485448 OR RCV002466415 OR RCV005042103" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032759, RCV000485448, RCV002466415, RCV005042103" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032759...</a>
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<p>For discussion of the 1-bp duplication (2270dupG) in the ADAMTSL4 gene that was found in compound heterozygous state in a patient with ectopia lentis et pupillae (<a href="/entry/225200">225200</a>) by <a href="#5" 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>, see <a href="#0003">610113.0003</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'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Ahram2009" class="mim-anchor"></a>
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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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<a id="Al-Salem1990" class="mim-anchor"></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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<a id="Aragon-Martin2010" class="mim-anchor"></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., Amo, 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, 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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Buchner, D. A., Meisler, M. H.
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<strong>TSRC1, a widely expressed gene containing seven thrombospondin type I repeats.</strong>
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Gene 307: 23-30, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12706885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12706885</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12706885" 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/s0378-1119(03)00423-2" 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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[<a href="https://doi.org/10.1167/iovs.12-9874" target="_blank">Full Text</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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<a id="Collin2015" class="mim-anchor"></a>
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Collin, G. B., Hubmacher, D., Charette, J. R., Hicks, W. L., Stone, L., Yu, M., Naggert, J. K., Krebs, M. P., Peachey, N. S., Apte, S. S., Nishina, P. M.
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<strong>Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.</strong>
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Hum. Molec. Genet. 24: 6958-6974, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26405179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26405179</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26405179[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=26405179" 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/10.1093/hmg/ddv399" target="_blank">Full Text</a>]
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Gabriel, L. A. R., Wang, L. W., Bader, H., Ho, J. C., Majors, A. K., Hollyfield, J. G., Traboulsi, E. I., Apte, S. S.
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<strong>ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis.</strong>
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Invest. Ophthal. Vis. Sci. 53: 461-469, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21989719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21989719</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21989719[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=21989719" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</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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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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Patricia A. Hartz - updated : 02/29/2016
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Marla J. F. O'Neill - updated : 1/25/2013<br>Patricia A. Hartz - updated : 1/17/2013<br>Marla J. F. O'Neill - updated : 3/26/2009
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carol : 07/18/2017<br>carol : 07/17/2017<br>mgross : 02/29/2016<br>carol : 6/29/2015<br>mcolton : 6/15/2015<br>carol : 8/26/2014<br>carol : 3/15/2013<br>carol : 1/25/2013<br>mgross : 1/17/2013<br>terry : 1/17/2013<br>terry : 6/4/2009<br>wwang : 3/30/2009<br>terry : 3/26/2009<br>carol : 5/12/2006<br>carol : 5/12/2006
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 610113
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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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ADAMTS-LIKE 4; ADAMTSL4
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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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<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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THROMBOSPONDIN REPEAT-CONTAINING 1; TSRC1
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</span>
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</h4>
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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><em>HGNC Approved Gene Symbol: ADAMTSL4</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 419237004;
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</p>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 1q21.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:150,549,408-150,560,937 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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1q21.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Ectopia lentis et pupillae
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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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225200
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</td>
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<td>
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<span class="mim-font">
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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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3
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</td>
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<tr>
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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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225100
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</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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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>ADAMTSL4 belongs to a family of proteins that share significant similarity with the ADAMTS family of metalloprotease (see ADAMTS1; 605174). However, ADAMTS-like proteins lack the zinc-binding metalloprotease domain of ADAMTS proteins and are therefore secreted glycoproteins rather than enzymes (summary by Gabriel et al., 2012). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By database analysis and PCR analysis of mouse brain, Buchner and Meisler (2003) cloned Adamtsl4, which they called Tsrc1. By database searching with the mouse Adamtsl4 sequence, they identified human ADAMTSL4. The deduced human and mouse proteins contain 1,074 and 1,036 amino acids, respectively, and share 76% sequence identity. The proteins contain 7 predicted thrombospondin type 1 (TSP1) repeats, 6 of which are clustered at the C-terminal end. The thrombospondin domains are most closely related to the ADAMTS (a disintegrin-like and metalloproteinase with thrombospondin type 1 repeats) subfamily. Northern blot analysis detected a 4.4-kb mouse Adamtsl4 transcript in muscle, brain, and other tissues; RT-PCR analysis confirmed expression in all fetal and adult tissues examined. </p><p>Ahram et al. (2009) amplified first-strand cDNA from adult human tissue and found expression of ADAMTSL4 in colon, heart, leukocyte, liver, lung, skeletal muscle, spleen, testis, and placenta; expression was weaker in bone marrow, brain tissue, kidney, and pancreas. Expression studies in fetal tissue revealed strong expression in heart, kidney, liver, lung, and skeletal muscle, but weaker expression in brain and skin. </p><p>Using Western blot and immunohistochemical analyses, Gabriel et al. (2012) found that ADAMTSL4 was widely expressed in normal human eye and was associated with both cells and extracellular medium. Western blot analysis of conditioned medium from transfected HEK293F cells showed that ADAMTSL4 was secreted as a major N- and O-glycosylated species with an apparent molecular mass of 150 kD. </p><p>Using in situ hybridization, Collin et al. (2015) found that Adamtsl4 was highly expressed in lens epithelium at the lens equator throughout mouse embryonic development and in adults. Adamtsl4 was more modestly expressed in other tissues of anterior and posterior eye segments, but not in the ciliary body. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Buchner and Meisler (2003) determined that the ADAMTSL4 gene contains 17 coding exons and 2 untranslated exons and spans about 10 kb of genomic DNA. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By sequence analysis, Buchner and Meisler (2003) mapped the human ADAMTSL4 gene to chromosome 1q21. They mapped the mouse Adamtsl4 gene in a region of syntenic homology on chromosome 3. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Fibroblasts secrete fibrillin-1 (FBN1; 134797) and deposit it into microfibrils after a period of confluence. Gabriel et al. (2012) showed that conditioned medium containing human ADAMTSL4 accelerated the deposition of Fbn1 into microfibrils by fetal bovine nunchal ligament fibroblasts. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a large consanguineous Arab family of Jordanian origin with isolated ectopia lentis mapping to chromosome 1p13.2-q21.1 (ECTOL2; 225100), 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). </p><p>In 10 affected individuals from 5 Norwegian families with ectopia lentis et pupillae (225200), Christensen et al. (2010) identified homozygosity for a 20-bp deletion in the ADAMTSL4 gene (610113.0003). There was evidence for a founder effect in this population. In 1 family, 1 of the 3 affected individuals had bilateral downward dislocation of the lenses but normally positioned pupils. </p><p>In 6 patients with FBN1-negative ectopia lentis, including 1 who had ectopia lentis et pupillae, Aragon-Martin et al. (2010) identified homozygous or compound heterozygous mutations in the ADAMTSL4 gene, including the 20-bp deletion reported by Christensen et al. (2010) (see, e.g., 610113.0003-610113.0005). </p><p>In 8 patients from 7 German families with isolated ectopia lentis, Neuhann et al. (2011) identified homozygosity for the 20-bp deletion in the ADAMTSL4 gene. A 4-SNP haplotype was consistently associated with the mutation, suggestive of a founder mutation. </p><p>Chandra et al. (2012) identified mutations in the ADAMTSL4 gene in 8 Caucasian British probands with isolated ectopia lentis, including 6 who were homozygous for the 20-bp deletion and 1 who was compound heterozygous for the 20-bp deletion and a 1-bp deletion (610113.0006). Another Caucasian British proband, who had ectopia lentis et pupillae, was found to be compound heterozygous for the 20-bp deletion and a 1-bp duplication in ADAMTSL4 (610113.0007). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Collin et al. (2015) reported tvrm267 mice, which were generated by N-ethyl-N-nitrosourea mutagenesis and harbor a gln609-to-ter (Q609X) nonsense mutation in the Adamtsl4 gene. Eyes of homozygous tvrm267 mice appeared normal at birth, but they developed age-dependent ectopia lentis due to ciliary zonule detachment from the lens capsule. Homozygous tyrm367 mice also showed age-dependent dedifferentiation of retinal pigment epithelial (RPE) cells, with downregulation of RPE-specific genes, including Lrat (604863), Rgr (600342), and Rpe65 (180069), and upregulation of Col18a1 (120328). Electroretinography confirmed RPE functional defects in homozygous tvrm267 mice. Some homozygous tvrm267 mice also showed increased axial length. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ADAMTSL4, TYR595TER
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<br />
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SNP: rs118203985,
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gnomAD: rs118203985,
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ClinVar: RCV000001414, RCV001390397
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a large consanguineous Arab family of Jordanian origin with isolated ectopia lentis (ECTOL2; 225100), originally reported by Al-Salem (1990), Ahram et al. (2009) identified homozygosity for a 1785T-G transversion in exon 11 of the ADAMTSL4 gene, resulting in a tyr595-to-ter (Y595X) substitution at an evolutionarily conserved residue, predicted to generate a truncated protein of 594 residues lacking 6 of the 7 TSP1 repeats. The mutation, which segregated with the phenotype in the family, was not found in 380 ethnically matched control chromosomes. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ADAMTSL4, IVS4, G-A, -1
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<br />
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SNP: rs587776927,
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ClinVar: RCV000032752
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Turkish boys with isolated ectopia lentis (ECTOL2; 225100), born of consanguineous parents, Greene et al. (2010) identified homozygosity for a -1G-A transition in intron 4 of the ADAMTSL4 gene that abolishes the splice acceptor site and creates a premature stop codon. Their unaffected parents were heterozygous for the mutation, which was not found in the SNP database and was not described as a physiologic splice variant in the Ensembl, UCSC, or Browser fast.db databases. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 ECTOPIA LENTIS ET PUPILLAE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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ADAMTSL4, 20-BP DEL, NT767
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<br />
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SNP: rs199473693,
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ClinVar: RCV000032753, RCV000032754, RCV000336254, RCV000844602, RCV002243679, RCV002504853, RCV004965265
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 10 affected individuals from 5 Norwegian families with ectopia lentis et pupillae (225200), Christensen et al. (2010) identified homozygosity for a 20-bp deletion (767_786del20) in the ADAMTSL4 gene, causing a frameshift predicted to result in a stop codon and premature termination 113 bp downstream. RT-PCR analysis of ADAMTSL4 mRNA confirmed the presence of a transcript truncated by 20 bp. Obligate heterozygotes had no ocular abnormalities. Homozygosity mapping in the 5 Norwegian families from Hordaland County in western Norway was compatible with a common ancestor 150 generations (4,000 years) earlier, and the mutation was found in heterozygosity in 3 of 190 local blood donors, corresponding to a prevalence for homozygosity of approximately 1:16,000 in this population. In 1 family, 1 of the 3 affected individuals had bilateral downward dislocation of the lenses but normally positioned pupils. </p><p>In a 15-year-old boy with isolated ectopia lentis (ECTOL2; 252100), Aragon-Martin et al. (2010) identified homozygosity for the 20-bp deletion in exon 6 of the ADAMTSL4 gene. The 20-bp deletion was also identified in compound heterozygosity with an 11-bp deletion (826_836del11; 610113.0004) in ADAMTSL4 in 2 affected members of a Caucasian British family with ectopia lentis and in an 8-year-old Swedish boy with ectopia lentis et pupillae. </p><p>In 8 patients from 7 German families with isolated ectopia lentis, Neuhann et al. (2011) identified homozygosity for the 20-bp deletion in the ADAMTSL4 gene, which they designated 759_778del20. 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><p>In 6 Caucasian British patients with isolated ectopia lentis, Chandra et al. (2012) identified homozygosity for the ADAMTSL4 20-bp deletion (Gln256ProfsTer38). Two more Caucasian British patients, 1 with isolated ectopia lentis and 1 with ectopia lentis et pupillae, were found to be compound heterozygous for the 20-bp deletion and 2 different frameshift mutations: a 1-bp deletion (237delC, Pro80ArgfsTer53; 610113.0006) and a 1-bp duplication (2270dupG, Gly758TrpfsTer59; 610113.0007), respectively, in the ADAMTSL4 gene. </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>.0004 ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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ECTOPIA LENTIS ET PUPILLAE, INCLUDED
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</span>
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<span class="mim-text-font">
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ADAMTSL4, 11-BP DEL, NT826
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<br />
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SNP: rs794726688,
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ClinVar: RCV000032755, RCV000032756, RCV003556094
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</span>
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</div>
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<p>For discussion of the 11-bp deletion in the ADAMTSL4 gene (826_836del11) that was found in compound heterozygous state in patients with isolated ectopia lentis (ECTOL2; 252100) and in a patient with ectopia lentis et pupillae (225200) by Aragon-Martin et al. (2010), see 610113.0003. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0005 ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE</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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ADAMTSL4, ARG670TER
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<br />
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SNP: rs368482584,
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gnomAD: rs368482584,
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ClinVar: RCV000032757, RCV001281006, RCV001731326, RCV003338388
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</span>
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</div>
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<span class="mim-text-font">
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<p>In 2 sibs from a Caucasian British family with autosomal recessive isolated ectopia lentis (ECTOL2; 242100), Aragon-Martin et al. (2010) identified homozygosity for a 2008C-T transition in exon 12 of the ADAMTSL4 gene, resulting in an arg670-to-ter (R670X; 610113.0004) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ADAMTSL4, 1-BP DEL, 237C
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<br />
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SNP: rs794726689,
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ClinVar: RCV000032758
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 1-bp deletion (237delC) in the ADAMTSL4 gene that was found in compound heterozygous state in a patient with isolated ectopia lentis (ECTOL2; 252100) by Chandra et al. (2012), see 610113.0003. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 ECTOPIA LENTIS ET PUPILLAE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ADAMTSL4, 1-BP DUP, 2270G
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<br />
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SNP: rs747160538,
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gnomAD: rs747160538,
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ClinVar: RCV000032759, RCV000485448, RCV002466415, RCV005042103
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 1-bp duplication (2270dupG) in the ADAMTSL4 gene that was found in compound heterozygous state in a patient with ectopia lentis et pupillae (225200) by Chandra et al. (2012), see 610113.0003. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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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.
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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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</p>
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</li>
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<li>
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<p class="mim-text-font">
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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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</p>
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</li>
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<li>
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<p class="mim-text-font">
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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., Amo, G.
|
|
<strong>Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.</strong>
|
|
Hum. Mutat. 31: E1622, 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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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Buchner, D. A., Meisler, M. H.
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|
<strong>TSRC1, a widely expressed gene containing seven thrombospondin type I repeats.</strong>
|
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Gene 307: 23-30, 2003.
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|
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[PubMed: 12706885]
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[Full Text: https://doi.org/10.1016/s0378-1119(03)00423-2]
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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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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.
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[PubMed: 22736615]
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[Full Text: https://doi.org/10.1167/iovs.12-9874]
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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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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.
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[PubMed: 20702823]
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[Full Text: https://doi.org/10.1167/iovs.10-5597]
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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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Collin, G. B., Hubmacher, D., Charette, J. R., Hicks, W. L., Stone, L., Yu, M., Naggert, J. K., Krebs, M. P., Peachey, N. S., Apte, S. S., Nishina, P. M.
|
|
<strong>Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.</strong>
|
|
Hum. Molec. Genet. 24: 6958-6974, 2015.
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[PubMed: 26405179]
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[Full Text: https://doi.org/10.1093/hmg/ddv399]
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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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Gabriel, L. A. R., Wang, L. W., Bader, H., Ho, J. C., Majors, A. K., Hollyfield, J. G., Traboulsi, E. I., Apte, S. S.
|
|
<strong>ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis.</strong>
|
|
Invest. Ophthal. Vis. Sci. 53: 461-469, 2012.
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[PubMed: 21989719]
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[Full Text: https://doi.org/10.1167/iovs.10-5955]
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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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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>
|
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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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</p>
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</li>
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<li>
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<p class="mim-text-font">
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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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</p>
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</li>
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</ol>
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<div>
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<br />
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Patricia A. Hartz - updated : 02/29/2016<br>Marla J. F. O'Neill - updated : 1/25/2013<br>Patricia A. Hartz - updated : 1/17/2013<br>Marla J. F. O'Neill - updated : 3/26/2009
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<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
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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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</body>
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</html>
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