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Entry
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- *602091 - LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 2; LTBP2
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*602091</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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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="#geneFamily">Gene Family</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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<li role="presentation" style="margin-left: 1em">
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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="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</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/602091">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>
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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>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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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=ENSG00000119681;t=ENST00000261978" 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=4053" 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=602091" 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=ENSG00000119681;t=ENST00000261978" 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_000428" 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_000428" 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=602091" 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=03650&isoform_id=03650_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/LTBP2" 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/1272664,1699300,4557733,9309503,11640570,50927279,62089316,119601588,119601589,296439311" 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/Q14767" 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=4053" 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=ENSG00000119681;t=ENST00000261978" 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=LTBP2" 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=LTBP2" 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+4053" 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/LTBP2" 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:4053" 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/4053" 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=chr14&hgg_gene=ENST00000261978.9&hgg_start=74498183&hgg_end=74612237&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:6715" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602091[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=602091[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/ENSG00000119681" 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=LTBP2" 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=LTBP2" 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=LTBP2" 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=LTBP2&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/PA164741922" 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:6715" 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://www.mousephenotype.org/data/genes/MGI:99502" 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/LTBP2#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:99502" 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/4053/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/OMIA002017/" 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=4053" 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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=LTBP2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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602091
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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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LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 2; LTBP2
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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LTBP3, FORMERLY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=LTBP2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LTBP2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/14/388?start=-3&limit=10&highlight=388">14q24.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:74498183-74612237&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'})">14:74,498,183-74,612,237</a> </span>
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</em>
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</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>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614819,613086,251750" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
|
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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="3">
|
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<span class="mim-font">
|
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<a href="/geneMap/14/388?start=-3&limit=10&highlight=388">
|
|
14q24.3
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
?Weill-Marchesani syndrome 3, recessive
|
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
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</span>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/614819"> 614819 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
Glaucoma 3, primary congenital, D
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/613086"> 613086 </a>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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</tr>
|
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/251750"> 251750 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
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<p>LTBP2 encodes an extracellular matrix (ECM) protein that is expressed in elastic tissues and associates with fibrillin-1 (FBN1; <a href="/entry/134797">134797</a>)-containing microfibrils (summary by <a href="#4" class="mim-tip-reference" title="Haji-Seyed-Javadi, R., Jelodari-Mamaghani, S., Paylakhi, S. H., Yazdani, S., Nilforushan, N., Fan, J.-B., Klotzle, B., Mahmoudi, M. J., Ebrahimian, M. J., Chelich, N., Taghiabadi, E., Kamyab, K., Boileau, C., Paisan-Ruiz, C., Ronaghi, M., Elahi, E. <strong>LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.</strong> Hum. Mutat. 33: 1182-1187, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22539340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22539340</a>] [<a href="https://doi.org/10.1002/humu.22105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22539340">Haji-Seyed-Javadi et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22539340" 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="Moren, A., Olofsson, A., Stenman, G., Sahlin, P., Kanzaki, T., Claesson-Welsh, L., ten Dijke, P., Miyazono, K., Heldin, C.-H. <strong>Identification and characterization of LTBP-2, a novel latent transforming growth factor-beta-binding protein.</strong> J. Biol. Chem. 269: 32469-32478, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7798248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7798248</a>]" pmid="7798248">Moren et al. (1994)</a> identified a novel latent transforming growth factor-beta binding protein (see LTBP1; <a href="/entry/150390">150390</a>), designated LTBP2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7798248" 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="Ali, M., McKibbin, M., Booth, A., Parry, D. A., Jain, P., Riazuddin, S. A., Hejtmancik, J. F., Khan, S. N., Firasat, S., Shires, M., Gilmour, D. F., Towns, K., and 12 others. <strong>Null mutations in LTBP2 cause primary congenital glaucoma.</strong> Am. J. Hum. Genet. 84: 664-671, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361779[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.2009.03.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361779">Ali et al. (2009)</a> characterized the LTBP2 gene. The 1,821-amino acid protein consists of 20 epidermal growth factor (EGF)-like domains, 4 transforming growth factor-beta binding protein (TB)-like modules each containing 8 cysteine residues, and an N-terminal signal peptide. Sixteen of the EGF domains have calcium-binding motifs, and it had been suggested that these adopt a rod-like molecular arrangement upon calcium binding in order to present a specific surface for protein-protein interactions. The cysteine-containing TB domains are unique features of the LTBP-fibrillin superfamily, providing a degree of conformational flexibility. LTBP2 has approximately 45% amino acid identity to LTBP1 and 25% identity to fibrillin-1 (FBN1; <a href="/entry/134797">134797</a>) but unlike other LTBP family members does not bind to latent forms of TGFB (<a href="/entry/190180">190180</a>). The C-terminal region of LTBP2 competes with LTBP1 for specific binding to the N-terminal region of FBN1, but not FBN2 (<a href="/entry/612570">612570</a>), in microfibrils. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By RT-PCR analysis, <a href="#8" class="mim-tip-reference" title="Narooie-Nejad, M., Paylakhi, S. H., Shojaee, S., Fazlali, Z., Kanavi, M. R., Nilforushan, N., Yazdani, S., Babrzadeh, F., Suri, F., Ronaghi, M., Elahi, E., Paisan-Ruiz, C. <strong>Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.</strong> Hum. Molec. Genet. 18: 3969-3977, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19656777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19656777</a>] [<a href="https://doi.org/10.1093/hmg/ddp338" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19656777">Narooie-Nejad et al. (2009)</a> showed high LTBP2 expression in human eyes, including the trabecular meshwork and ciliary processes that are thought to be relevant to the etiology of primary congenital glaucoma. Immunohistochemical analysis of human eye showed highest LTBP2 expression in the Descemet membrane and in the lens capsule, with expression also in the nonpigmented epithelium of the ciliary processes, trabecular meshwork, and transitional zone between the sclera and corneal stroma. Expression was minimal in corneal stroma, sclera, and iris. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19656777" 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>See <a href="#9" class="mim-tip-reference" title="Oklu, R., Hesketh, R. <strong>The latent transforming growth factor beta binding protein (LTBP) family.</strong> Biochem. J. 352: 601-610, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11104663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11104663</a>]" pmid="11104663">Oklu and Hesketh (2000)</a> for a review of the LTBP gene family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11104663" 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="#1" class="mim-tip-reference" title="Ali, M., McKibbin, M., Booth, A., Parry, D. A., Jain, P., Riazuddin, S. A., Hejtmancik, J. F., Khan, S. N., Firasat, S., Shires, M., Gilmour, D. F., Towns, K., and 12 others. <strong>Null mutations in LTBP2 cause primary congenital glaucoma.</strong> Am. J. Hum. Genet. 84: 664-671, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361779[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.2009.03.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361779">Ali et al. (2009)</a> determined that the LTBP2 gene comprises 35 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361779" 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="Moren, A., Olofsson, A., Stenman, G., Sahlin, P., Kanzaki, T., Claesson-Welsh, L., ten Dijke, P., Miyazono, K., Heldin, C.-H. <strong>Identification and characterization of LTBP-2, a novel latent transforming growth factor-beta-binding protein.</strong> J. Biol. Chem. 269: 32469-32478, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7798248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7798248</a>]" pmid="7798248">Moren et al. (1994)</a> mapped the LTBP2 gene to chromosome 14q24 by analysis of somatic cell hybrids and by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7798248" 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><strong><em>Primary Congenital Glaucoma 3D</em></strong></p><p>
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In 4 consanguineous Pakistani families and in 8 Gypsy individuals with primary congenital glaucoma (GLC3D; <a href="/entry/613086">613086</a>), <a href="#1" class="mim-tip-reference" title="Ali, M., McKibbin, M., Booth, A., Parry, D. A., Jain, P., Riazuddin, S. A., Hejtmancik, J. F., Khan, S. N., Firasat, S., Shires, M., Gilmour, D. F., Towns, K., and 12 others. <strong>Null mutations in LTBP2 cause primary congenital glaucoma.</strong> Am. J. Hum. Genet. 84: 664-671, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361779[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.2009.03.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361779">Ali et al. (2009)</a> identified homozygous nonsense mutations in the LTBP2 gene. The data suggested that R299X (<a href="#0001">602091.0001</a>) is the major primary congenital glaucoma founder mutation in the Gypsy population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361779" 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 consanguineous Iranian families with primary congenital glaucoma, <a href="#8" class="mim-tip-reference" title="Narooie-Nejad, M., Paylakhi, S. H., Shojaee, S., Fazlali, Z., Kanavi, M. R., Nilforushan, N., Yazdani, S., Babrzadeh, F., Suri, F., Ronaghi, M., Elahi, E., Paisan-Ruiz, C. <strong>Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.</strong> Hum. Molec. Genet. 18: 3969-3977, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19656777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19656777</a>] [<a href="https://doi.org/10.1093/hmg/ddp338" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19656777">Narooie-Nejad et al. (2009)</a> independently identified respective homozygous 1-bp deletions (<a href="#0006">602091.0006</a>-<a href="#0007">602091.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19656777" 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 12 Roma/Gypsy probands with congenital glaucoma, <a href="#2" class="mim-tip-reference" title="Azmanov, D. N., Dimitrova, S., Florez, L., Cherninkova, S., Draganov, D., Morar, B., Saat, R., Juan, M., Arostegui, J. I., Ganguly, S., Soodyall, H., Chakrabarti, S., and 10 others. <strong>LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.</strong> Europ. J. Hum. Genet. 19: 326-333, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21081970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21081970</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21081970[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/10.1038/ejhg.2010.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21081970">Azmanov et al. (2011)</a> identified homozygosity for the R299X founder mutation. In an additional patient, they identified compound heterozygosity for R299X and a missense mutation in the CYP1B1 gene (R368H; <a href="/entry/601771#0012">601771.0012</a>). However, the authors stated that their preliminary observations suggested that CYP1B1/LTBP2 combinations in this and other patients were of no clinical significance and that digenic inheritance was unlikely. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21081970" 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><strong><em>Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma</em></strong></p><p>
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In 3 affected brothers from a consanguineous Indian family with isolated microspherophakia and lens dislocation mapping to chromosome 14q24-q32.12 (MSPKA; <a href="/entry/251750">251750</a>), <a href="#6" class="mim-tip-reference" title="Kumar, A., Duvvari, M. R., Prabhakaran, V. C., Shetty, J. S., Murthy, G. J., Blanton, S. H. <strong>A homozygous mutation in LTBP2 causes isolated microspherophakia.</strong> Hum. Genet. 128: 365-371, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20617341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20617341</a>] [<a href="https://doi.org/10.1007/s00439-010-0858-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20617341">Kumar et al. (2010)</a> identified homozygosity for a frameshift mutation in the LTBP2 gene (<a href="#0005">602091.0005</a>). Primary congenital glaucoma was excluded in the affected sibs, and none had any systemic involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20617341" 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 3 affected sibs from a consanguineous Moroccan family with megalocornea, microspherophakia, ectopia lentis, and secondary glaucoma mapping to chromosome 14q23.3-q24.3, <a href="#3" class="mim-tip-reference" title="Desir, J., Sznajer, Y., Depasse, F., Roulez, F., Schrooyen, M., Meire, F., Abramowicz, M. <strong>LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.</strong> Europ. J. Hum. Genet. 18: 761-767, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20179738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20179738</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20179738[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/10.1038/ejhg.2010.11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20179738">Desir et al. (2010)</a> analyzed the candidate gene LTBP2 and identified homozygosity for a 1-bp insertion (<a href="#0008">602091.0008</a>). In a similarly affected girl of Macedonian Gypsy origin, they identified homozygosity for the R299X mutation in LTBP2, previously identified in patients with primary congenital glaucoma, including patients of European Gypsy origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20179738" 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 affected individuals from 3 consanguineous families with megalocornea and secondary glaucoma due to spherophakia and/or ectopia lentis, <a href="#5" class="mim-tip-reference" title="Khan, A. O., Aldahmesh, M. A., Alkuraya, F. S. <strong>Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma--a distinct phenotype caused by recessive LTBP2 mutations.</strong> Molec. Vis. 17: 2570-2579, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22025892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22025892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22025892[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="22025892">Khan et al. (2011)</a> identified homozygosity for a 1-bp deletion, a nonsense mutation, and a missense mutation (<a href="#0009">602091.0009</a>-<a href="#0011">602091.0011</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22025892" 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><strong><em>Weill-Marchesani Syndrome 3</em></strong></p><p>
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In affected members of a large consanguineous Iranian family with Weill-Marchesani syndrome (WMS3; <a href="/entry/614819">614819</a>), <a href="#4" class="mim-tip-reference" title="Haji-Seyed-Javadi, R., Jelodari-Mamaghani, S., Paylakhi, S. H., Yazdani, S., Nilforushan, N., Fan, J.-B., Klotzle, B., Mahmoudi, M. J., Ebrahimian, M. J., Chelich, N., Taghiabadi, E., Kamyab, K., Boileau, C., Paisan-Ruiz, C., Ronaghi, M., Elahi, E. <strong>LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.</strong> Hum. Mutat. 33: 1182-1187, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22539340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22539340</a>] [<a href="https://doi.org/10.1002/humu.22105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22539340">Haji-Seyed-Javadi et al. (2012)</a> identified homozygosity for a missense mutation (V1177M; <a href="#0012">602091.0012</a>) in the LTBP2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22539340" 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="#10" class="mim-tip-reference" title="Shipley, J. M., Mecham, R. P., Maus, E., Bonadio, J., Rosenbloom, J., McCarthy, R. T., Baumann, M. L., Frankfater, C., Segade, F., Shapiro, S. D. <strong>Developmental expression of latent transforming growth factor beta binding protein 2 and its requirement early in mouse development.</strong> Molec. Cell. Biol. 20: 4879-4887, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10848613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10848613</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10848613[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/10.1128/MCB.20.13.4879-4887.2000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10848613">Shipley et al. (2000)</a> targeted disruption of Ltbp2 in mice. All died between embryonic day 3.5 and 6.5. <a href="#1" class="mim-tip-reference" title="Ali, M., McKibbin, M., Booth, A., Parry, D. A., Jain, P., Riazuddin, S. A., Hejtmancik, J. F., Khan, S. N., Firasat, S., Shires, M., Gilmour, D. F., Towns, K., and 12 others. <strong>Null mutations in LTBP2 cause primary congenital glaucoma.</strong> Am. J. Hum. Genet. 84: 664-671, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361779[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.2009.03.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361779">Ali et al. (2009)</a> found expression of mouse Ltbp2 in connective tissue throughout the body and in particular spinal cord, cardiac, and skeletal muscles as well as renal and seminiferous tubules. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10848613+19361779" 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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MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, INCLUDED
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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> rs121918355 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918355;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/rs121918355?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=rs121918355" 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=rs121918355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a consanguineous Pakistani family with congenital glaucoma (GLC3D; <a href="/entry/613086">613086</a>), <a href="#1" class="mim-tip-reference" title="Ali, M., McKibbin, M., Booth, A., Parry, D. A., Jain, P., Riazuddin, S. A., Hejtmancik, J. F., Khan, S. N., Firasat, S., Shires, M., Gilmour, D. F., Towns, K., and 12 others. <strong>Null mutations in LTBP2 cause primary congenital glaucoma.</strong> Am. J. Hum. Genet. 84: 664-671, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361779[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.2009.03.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361779">Ali et al. (2009)</a> identified homozygosity for a C-to-T transition at nucleotide 895 in exon 4 of the LTBP2 gene, resulting in an arg-to-ter substitution at codon 299 (R299X). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361779" 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="Ali, M., McKibbin, M., Booth, A., Parry, D. A., Jain, P., Riazuddin, S. A., Hejtmancik, J. F., Khan, S. N., Firasat, S., Shires, M., Gilmour, D. F., Towns, K., and 12 others. <strong>Null mutations in LTBP2 cause primary congenital glaucoma.</strong> Am. J. Hum. Genet. 84: 664-671, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361779[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.2009.03.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361779">Ali et al. (2009)</a> also identified this mutation in 8 of 15 CYP1B1 (<a href="/entry/601771">601771</a>)-negative Gypsy patients. The authors suggested that R299X is the major founder mutation in the Gypsy population, accounting for more than 50% of CYP1B1-negative and nearly 40% of all PCG cases in that population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361779" 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 12 Roma/Gypsy probands with congenital glaucoma, <a href="#2" class="mim-tip-reference" title="Azmanov, D. N., Dimitrova, S., Florez, L., Cherninkova, S., Draganov, D., Morar, B., Saat, R., Juan, M., Arostegui, J. I., Ganguly, S., Soodyall, H., Chakrabarti, S., and 10 others. <strong>LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.</strong> Europ. J. Hum. Genet. 19: 326-333, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21081970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21081970</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21081970[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/10.1038/ejhg.2010.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21081970">Azmanov et al. (2011)</a> identified homozygosity for the R299X founder mutation. In an additional patient, they identified compound heterozygosity for R299X and a missense mutation in the CYP1B1 gene (R368H; <a href="/entry/601771#0012">601771.0012</a>). However, the authors stated that their preliminary observations suggested that CYP1B1/LTBP2 combinations in this and other patients were of no clinical significance and that digenic inheritance was unlikely. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21081970" 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 3-year-old girl of Macedonian Gypsy origin with megalocornea, microspherophakia, and lens dislocation (MSPKA; <a href="/entry/251750">251750</a>), <a href="#3" class="mim-tip-reference" title="Desir, J., Sznajer, Y., Depasse, F., Roulez, F., Schrooyen, M., Meire, F., Abramowicz, M. <strong>LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.</strong> Europ. J. Hum. Genet. 18: 761-767, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20179738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20179738</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20179738[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/10.1038/ejhg.2010.11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20179738">Desir et al. (2010)</a> identified homozygosity for the R299X mutation in the LTBP2 gene. Her unaffected parents were heterozygous for the mutation, which was not found in 100 Caucasian controls. When initially seen at 2 years of age, she had normal eye pressures, and still had not developed glaucoma at 3 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20179738" 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">rs1566660365 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1566660365;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=rs1566660365" 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=rs1566660365" 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=RCV000007991" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007991" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007991</a>
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<p>In affected members of a consanguineous Pakistani family with congenital glaucoma (GLC3D; <a href="/entry/613086">613086</a>), <a href="#1" class="mim-tip-reference" title="Ali, M., McKibbin, M., Booth, A., Parry, D. A., Jain, P., Riazuddin, S. A., Hejtmancik, J. F., Khan, S. N., Firasat, S., Shires, M., Gilmour, D. F., Towns, K., and 12 others. <strong>Null mutations in LTBP2 cause primary congenital glaucoma.</strong> Am. J. Hum. Genet. 84: 664-671, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361779[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.2009.03.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361779">Ali et al. (2009)</a> identified homozygosity for a single-nucleotide deletion at position 412 in exon 1 of the LTBP2 gene (412delG) resulting in a frameshift and leading to a putative stop codon 140 amino acids downstream (Ala138ProfsTer278). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361779" 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>.0003 GLAUCOMA 3, PRIMARY CONGENITAL, D</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1566635134 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1566635134;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=rs1566635134" 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=rs1566635134" 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=RCV000007992" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007992" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007992</a>
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<p>In affected members of a consanguineous Pakistani family with congenital glaucoma (GLC3D; <a href="/entry/613086">613086</a>), <a href="#1" class="mim-tip-reference" title="Ali, M., McKibbin, M., Booth, A., Parry, D. A., Jain, P., Riazuddin, S. A., Hejtmancik, J. F., Khan, S. N., Firasat, S., Shires, M., Gilmour, D. F., Towns, K., and 12 others. <strong>Null mutations in LTBP2 cause primary congenital glaucoma.</strong> Am. J. Hum. Genet. 84: 664-671, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361779[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.2009.03.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361779">Ali et al. (2009)</a> identified homozygosity for a 14-bp deletion in exon 6 of the LTBP2 gene beginning at nucleotide 1243 (1243-1256del), resulting in frameshift and premature protein termination (Glu415ArgfsTer596). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 GLAUCOMA 3, PRIMARY CONGENITAL, D</strong>
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LTBP2, GLN111TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918356 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918356;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=rs121918356" 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=rs121918356" 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=RCV000007993" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007993" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007993</a>
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<p>In affected members of a consanguineous Pakistani family with congenital glaucoma (GLC3D; <a href="/entry/613086">613086</a>), <a href="#1" class="mim-tip-reference" title="Ali, M., McKibbin, M., Booth, A., Parry, D. A., Jain, P., Riazuddin, S. A., Hejtmancik, J. F., Khan, S. N., Firasat, S., Shires, M., Gilmour, D. F., Towns, K., and 12 others. <strong>Null mutations in LTBP2 cause primary congenital glaucoma.</strong> Am. J. Hum. Genet. 84: 664-671, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361779[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.2009.03.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19361779">Ali et al. (2009)</a> identified homozygosity for a C-to-T transition at nucleotide 331 in exon 1 of the LTBP2 gene, resulting in a gln-to-ter substitution at codon 111 (Q111X). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<strong>.0005 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA</strong>
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LTBP2, 1-BP INS, 5446C
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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> rs777661862 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs777661862;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/rs777661862?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=rs777661862" 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=rs777661862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007994" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007994" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007994</a>
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<p>In 3 affected brothers from a consanguineous Indian family with microspherophakia and lens dislocation (MSPKA; <a href="/entry/251750">251750</a>), <a href="#6" class="mim-tip-reference" title="Kumar, A., Duvvari, M. R., Prabhakaran, V. C., Shetty, J. S., Murthy, G. J., Blanton, S. H. <strong>A homozygous mutation in LTBP2 causes isolated microspherophakia.</strong> Hum. Genet. 128: 365-371, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20617341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20617341</a>] [<a href="https://doi.org/10.1007/s00439-010-0858-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20617341">Kumar et al. (2010)</a> identified homozygosity for a 1-bp insertion (5446insC) in exon 36 of the LTBP2 gene, predicted to elongate the LTBP2 protein by replacing the last 6 amino acids with 27 novel amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20617341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<strong>.0006 GLAUCOMA 3, PRIMARY CONGENITAL, D</strong>
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LTBP2, 1-BP DEL, 1415C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1566634475 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1566634475;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=rs1566634475" 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=rs1566634475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007995" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007995" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007995</a>
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<p>In a consanguineous Iranian family with primary congenital glaucoma (GLC3D; <a href="/entry/613086">613086</a>), <a href="#8" class="mim-tip-reference" title="Narooie-Nejad, M., Paylakhi, S. H., Shojaee, S., Fazlali, Z., Kanavi, M. R., Nilforushan, N., Yazdani, S., Babrzadeh, F., Suri, F., Ronaghi, M., Elahi, E., Paisan-Ruiz, C. <strong>Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.</strong> Hum. Molec. Genet. 18: 3969-3977, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19656777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19656777</a>] [<a href="https://doi.org/10.1093/hmg/ddp338" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19656777">Narooie-Nejad et al. (2009)</a> identified a homozygous 1-bp deletion (1415delC) in exon 7 of the LTBP2 gene, resulting in a frameshift and premature termination. The deletion was not identified in 400 control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19656777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 GLAUCOMA 3, PRIMARY CONGENITAL, D</strong>
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LTBP2, 1-BP DEL, 5376C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137854895 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854895;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=rs137854895" 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=rs137854895" 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=RCV000007996 OR RCV000114816" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007996, RCV000114816" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007996...</a>
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<p>In a consanguineous Iranian family with primary congenital glaucoma (GLC3D; <a href="/entry/613086">613086</a>), <a href="#8" class="mim-tip-reference" title="Narooie-Nejad, M., Paylakhi, S. H., Shojaee, S., Fazlali, Z., Kanavi, M. R., Nilforushan, N., Yazdani, S., Babrzadeh, F., Suri, F., Ronaghi, M., Elahi, E., Paisan-Ruiz, C. <strong>Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.</strong> Hum. Molec. Genet. 18: 3969-3977, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19656777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19656777</a>] [<a href="https://doi.org/10.1093/hmg/ddp338" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19656777">Narooie-Nejad et al. (2009)</a> identified a homozygous 1-bp deletion (5376delC) in exon 36 of the LTBP2 gene, resulting in the addition of 28 amino acids to the C terminus of the protein. The deletion was not identified in 400 control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19656777" 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>.0008 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1566628109 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1566628109;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=rs1566628109" 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=rs1566628109" 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=RCV000024325" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024325" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024325</a>
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<p>In a brother and 2 sisters from a consanguineous Moroccan family with microspherophakia, megalocornea, lens dislocation, and secondary glaucoma (MSPKA; <a href="/entry/251750">251750</a>), <a href="#3" class="mim-tip-reference" title="Desir, J., Sznajer, Y., Depasse, F., Roulez, F., Schrooyen, M., Meire, F., Abramowicz, M. <strong>LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.</strong> Europ. J. Hum. Genet. 18: 761-767, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20179738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20179738</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20179738[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/10.1038/ejhg.2010.11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20179738">Desir et al. (2010)</a> identified homozygosity for a 1-bp duplication (1796dupC) in exon 9 of the LTBP2 gene, causing a frameshift predicted to result in a premature termination codon (Val600GlyfsTer4). Their unaffected parents were heterozygous for the mutation, which was not found in 100 Moroccan controls. Analysis of mRNA from patient and control fibroblasts showed results consistent with nonsense-mediated mRNA decay. The oldest sib, a 14-year-old boy, displayed some marfanoid features (see Marfan syndrome, <a href="/entry/154700">154700</a>) including arm span greater than height, decreased upper-to-lower body ratio, and high-arched palate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20179738" 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>.0009 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA</strong>
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LTBP2, 1-BP DEL, 1012T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1566636728 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1566636728;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=rs1566636728" 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=rs1566636728" 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=RCV000024326" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024326" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024326</a>
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<p>In 2 male cousins, 2 years and 14 years old, from a consanguineous Saudi Arabian family with megalocornea, lens dislocation, and secondary glaucoma (MSPKA; <a href="/entry/251750">251750</a>), <a href="#5" class="mim-tip-reference" title="Khan, A. O., Aldahmesh, M. A., Alkuraya, F. S. <strong>Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma--a distinct phenotype caused by recessive LTBP2 mutations.</strong> Molec. Vis. 17: 2570-2579, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22025892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22025892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22025892[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="22025892">Khan et al. (2011)</a> identified homozygosity for a 1-bp deletion (1012delT) in exon 4 of the LTBP2 gene, causing a frameshift predicted to result in a premature termination codon (Ser338ProfsTer2). Their unaffected parents were all heterozygous for the mutation. The older boy was tall and thin with a relatively high-arched palate, but there were no other features to suggest Marfan syndrome (<a href="/entry/154700">154700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22025892" 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>.0010 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA</strong>
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LTBP2, GLN1619TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907174 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907174;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=rs387907174" 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=rs387907174" 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=RCV000024327" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024327" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024327</a>
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<p>In 2 brothers from a consanguineous Saudi Arabian family with microspherophakia, megalocornea, lens dislocation, and secondary glaucoma (MSPKA; <a href="/entry/251750">251750</a>), <a href="#5" class="mim-tip-reference" title="Khan, A. O., Aldahmesh, M. A., Alkuraya, F. S. <strong>Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma--a distinct phenotype caused by recessive LTBP2 mutations.</strong> Molec. Vis. 17: 2570-2579, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22025892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22025892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22025892[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="22025892">Khan et al. (2011)</a> identified homozygosity for a 4855C-T transition in exon 33 of the LTBP2 gene, resulting in a gln1619-to-ter (Q1619X) substitution. Their unaffected parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22025892" 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>.0011 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA</strong>
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LTBP2, CYS1438TYR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907175 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907175;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=rs387907175" 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=rs387907175" 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=RCV000024328 OR RCV003338387 OR RCV003987333" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024328, RCV003338387, RCV003987333" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024328...</a>
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<p>In 2 brothers from a consanguineous Saudi Arabian family with megalocornea, lens dislocation, and secondary glaucoma (MSPKA; <a href="/entry/251750">251750</a>), 1 of whom also had microspherophakia, <a href="#5" class="mim-tip-reference" title="Khan, A. O., Aldahmesh, M. A., Alkuraya, F. S. <strong>Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma--a distinct phenotype caused by recessive LTBP2 mutations.</strong> Molec. Vis. 17: 2570-2579, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22025892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22025892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22025892[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="22025892">Khan et al. (2011)</a> identified homozygosity for a 4313G-A transition in exon 29 of the LTBP2 gene, resulting in a cys1438-to-tyr (C1438Y) substitution at a conserved residue. Their affected father and an affected paternal aunt were also homozygous for the mutation, which was found in heterozygosity in the boys' unaffected mother but was not present in 100 ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22025892" 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>.0012 WEILL-MARCHESANI SYNDROME 3 (1 family)</strong>
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LTBP2, VAL1177MET
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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> rs137854856 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854856;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/rs137854856?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=rs137854856" 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=rs137854856" 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=RCV000030740 OR RCV000114810" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030740, RCV000114810" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030740...</a>
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<p>In an affected brother and sister and their affected cousin from a large consanguineous Iranian family with Weill-Marchesani syndrome (WMS3; <a href="/entry/614819">614819</a>), <a href="#4" class="mim-tip-reference" title="Haji-Seyed-Javadi, R., Jelodari-Mamaghani, S., Paylakhi, S. H., Yazdani, S., Nilforushan, N., Fan, J.-B., Klotzle, B., Mahmoudi, M. J., Ebrahimian, M. J., Chelich, N., Taghiabadi, E., Kamyab, K., Boileau, C., Paisan-Ruiz, C., Ronaghi, M., Elahi, E. <strong>LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.</strong> Hum. Mutat. 33: 1182-1187, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22539340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22539340</a>] [<a href="https://doi.org/10.1002/humu.22105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22539340">Haji-Seyed-Javadi et al. (2012)</a> identified homozygosity for a 3529G-A transition in exon 24 of the LTBP2 gene, resulting in a val1177-to-met (V1177M) substitution at a highly conserved residue within the consensus calcium-binding sequence of the ninth calcium-binding epidermal growth factor (<a href="/entry/131530">131530</a>)-like motif. The mutation was also present in homozygosity in 3 more affected relatives who displayed some features of Weill-Marchesani syndrome but had no ocular abnormalities. Unaffected family members were either heterozygous or homozygous for wildtype LTBP2, and the mutation was not found in 400 ethnically matched controls. Histologic examination of the extracellular matrix (ECM) of skin fibroblasts from the proband revealed elastic fibers that appeared clumped and fragmented compared to a control, and electron micrography showed obvious disruption of the ECM in the patient's skin, with notable reduction in abundance of collagen fibers and increased space between adjacent fibers of the patient. <a href="#4" class="mim-tip-reference" title="Haji-Seyed-Javadi, R., Jelodari-Mamaghani, S., Paylakhi, S. H., Yazdani, S., Nilforushan, N., Fan, J.-B., Klotzle, B., Mahmoudi, M. J., Ebrahimian, M. J., Chelich, N., Taghiabadi, E., Kamyab, K., Boileau, C., Paisan-Ruiz, C., Ronaghi, M., Elahi, E. <strong>LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.</strong> Hum. Mutat. 33: 1182-1187, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22539340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22539340</a>] [<a href="https://doi.org/10.1002/humu.22105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22539340">Haji-Seyed-Javadi et al. (2012)</a> concluded that the V1177M mutation disrupts microfibrils and causes changes in the substructure of the ECM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22539340" 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 href="https://doi.org/10.1016/j.ajhg.2009.03.017" target="_blank">Full Text</a>]
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Azmanov, D. N., Dimitrova, S., Florez, L., Cherninkova, S., Draganov, D., Morar, B., Saat, R., Juan, M., Arostegui, J. I., Ganguly, S., Soodyall, H., Chakrabarti, S., and 10 others.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21081970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21081970</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21081970[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=21081970" 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/10.1038/ejhg.2010.181" target="_blank">Full Text</a>]
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Desir, J., Sznajer, Y., Depasse, F., Roulez, F., Schrooyen, M., Meire, F., Abramowicz, M.
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<strong>LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.</strong>
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Europ. J. Hum. Genet. 18: 761-767, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20179738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20179738</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20179738[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=20179738" 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/10.1038/ejhg.2010.11" target="_blank">Full Text</a>]
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Haji-Seyed-Javadi, R., Jelodari-Mamaghani, S., Paylakhi, S. H., Yazdani, S., Nilforushan, N., Fan, J.-B., Klotzle, B., Mahmoudi, M. J., Ebrahimian, M. J., Chelich, N., Taghiabadi, E., Kamyab, K., Boileau, C., Paisan-Ruiz, C., Ronaghi, M., Elahi, E.
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<strong>LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.</strong>
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Hum. Mutat. 33: 1182-1187, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22539340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22539340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22539340" 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.22105" target="_blank">Full Text</a>]
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Khan, A. O., Aldahmesh, M. A., Alkuraya, F. S.
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<strong>Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma--a distinct phenotype caused by recessive LTBP2 mutations.</strong>
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Molec. Vis. 17: 2570-2579, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22025892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22025892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22025892[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=22025892" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kumar, A., Duvvari, M. R., Prabhakaran, V. C., Shetty, J. S., Murthy, G. J., Blanton, S. H.
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<strong>A homozygous mutation in LTBP2 causes isolated microspherophakia.</strong>
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Hum. Genet. 128: 365-371, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20617341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20617341</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20617341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Moren, A., Olofsson, A., Stenman, G., Sahlin, P., Kanzaki, T., Claesson-Welsh, L., ten Dijke, P., Miyazono, K., Heldin, C.-H.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7798248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7798248</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7798248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Narooie-Nejad, M., Paylakhi, S. H., Shojaee, S., Fazlali, Z., Kanavi, M. R., Nilforushan, N., Yazdani, S., Babrzadeh, F., Suri, F., Ronaghi, M., Elahi, E., Paisan-Ruiz, C.
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<strong>Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.</strong>
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Hum. Molec. Genet. 18: 3969-3977, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19656777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19656777</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19656777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>The latent transforming growth factor beta binding protein (LTBP) family.</strong>
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Biochem. J. 352: 601-610, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11104663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11104663</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11104663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Shipley, J. M., Mecham, R. P., Maus, E., Bonadio, J., Rosenbloom, J., McCarthy, R. T., Baumann, M. L., Frankfater, C., Segade, F., Shapiro, S. D.
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<strong>Developmental expression of latent transforming growth factor beta binding protein 2 and its requirement early in mouse development.</strong>
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Molec. Cell. Biol. 20: 4879-4887, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10848613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10848613</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10848613[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=10848613" 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/10.1128/MCB.20.13.4879-4887.2000" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 6/1/2012<br>Marla J. F. O'Neill - updated : 6/21/2011<br>George E. Tiller - updated : 8/6/2010<br>Marla J. F. O'Neill - updated : 8/5/2010<br>Ada Hamosh - updated : 10/6/2009<br>Patricia A. Hartz - updated : 3/11/2002<br>Ada Hamosh - edited : 6/11/1999
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alopez : 07/21/2021<br>carol : 12/12/2017<br>carol : 11/20/2017<br>carol : 09/16/2013<br>carol : 9/16/2013<br>carol : 9/13/2012<br>terry : 9/13/2012<br>carol : 6/1/2012<br>terry : 6/1/2012<br>carol : 4/10/2012<br>carol : 6/21/2011<br>carol : 10/28/2010<br>carol : 8/18/2010<br>wwang : 8/11/2010<br>terry : 8/6/2010<br>carol : 8/5/2010<br>terry : 8/5/2010<br>alopez : 10/14/2009<br>terry : 10/6/2009<br>carol : 3/11/2002<br>mgross : 3/21/2000<br>carol : 6/11/1999<br>mark : 12/5/1997<br>terry : 10/28/1997<br>mark : 10/27/1997<br>mark : 10/27/1997
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 602091
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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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LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 2; LTBP2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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LTBP3, FORMERLY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: LTBP2</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>
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<em>
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Cytogenetic location: 14q24.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:74,498,183-74,612,237 </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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<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="3">
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<span class="mim-font">
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14q24.3
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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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?Weill-Marchesani syndrome 3, 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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614819
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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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<tr>
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<td>
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<span class="mim-font">
|
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Glaucoma 3, primary congenital, D
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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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613086
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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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</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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<tr>
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<td>
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<span class="mim-font">
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Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
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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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251750
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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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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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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>LTBP2 encodes an extracellular matrix (ECM) protein that is expressed in elastic tissues and associates with fibrillin-1 (FBN1; 134797)-containing microfibrils (summary by Haji-Seyed-Javadi 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>Moren et al. (1994) identified a novel latent transforming growth factor-beta binding protein (see LTBP1; 150390), designated LTBP2. </p><p>Ali et al. (2009) characterized the LTBP2 gene. The 1,821-amino acid protein consists of 20 epidermal growth factor (EGF)-like domains, 4 transforming growth factor-beta binding protein (TB)-like modules each containing 8 cysteine residues, and an N-terminal signal peptide. Sixteen of the EGF domains have calcium-binding motifs, and it had been suggested that these adopt a rod-like molecular arrangement upon calcium binding in order to present a specific surface for protein-protein interactions. The cysteine-containing TB domains are unique features of the LTBP-fibrillin superfamily, providing a degree of conformational flexibility. LTBP2 has approximately 45% amino acid identity to LTBP1 and 25% identity to fibrillin-1 (FBN1; 134797) but unlike other LTBP family members does not bind to latent forms of TGFB (190180). The C-terminal region of LTBP2 competes with LTBP1 for specific binding to the N-terminal region of FBN1, but not FBN2 (612570), in microfibrils. </p><p>By RT-PCR analysis, Narooie-Nejad et al. (2009) showed high LTBP2 expression in human eyes, including the trabecular meshwork and ciliary processes that are thought to be relevant to the etiology of primary congenital glaucoma. Immunohistochemical analysis of human eye showed highest LTBP2 expression in the Descemet membrane and in the lens capsule, with expression also in the nonpigmented epithelium of the ciliary processes, trabecular meshwork, and transitional zone between the sclera and corneal stroma. Expression was minimal in corneal stroma, sclera, and iris. </p>
|
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</span>
|
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<div>
|
|
<br />
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Family</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<span class="mim-text-font">
|
|
<p>See Oklu and Hesketh (2000) for a review of the LTBP gene family. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
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|
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ali et al. (2009) determined that the LTBP2 gene comprises 35 exons. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Moren et al. (1994) mapped the LTBP2 gene to chromosome 14q24 by analysis of somatic cell hybrids and by fluorescence in situ hybridization. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Primary Congenital Glaucoma 3D</em></strong></p><p>
|
|
In 4 consanguineous Pakistani families and in 8 Gypsy individuals with primary congenital glaucoma (GLC3D; 613086), Ali et al. (2009) identified homozygous nonsense mutations in the LTBP2 gene. The data suggested that R299X (602091.0001) is the major primary congenital glaucoma founder mutation in the Gypsy population. </p><p>In 2 consanguineous Iranian families with primary congenital glaucoma, Narooie-Nejad et al. (2009) independently identified respective homozygous 1-bp deletions (602091.0006-602091.0007). </p><p>In 12 Roma/Gypsy probands with congenital glaucoma, Azmanov et al. (2011) identified homozygosity for the R299X founder mutation. In an additional patient, they identified compound heterozygosity for R299X and a missense mutation in the CYP1B1 gene (R368H; 601771.0012). However, the authors stated that their preliminary observations suggested that CYP1B1/LTBP2 combinations in this and other patients were of no clinical significance and that digenic inheritance was unlikely. </p><p><strong><em>Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma</em></strong></p><p>
|
|
In 3 affected brothers from a consanguineous Indian family with isolated microspherophakia and lens dislocation mapping to chromosome 14q24-q32.12 (MSPKA; 251750), Kumar et al. (2010) identified homozygosity for a frameshift mutation in the LTBP2 gene (602091.0005). Primary congenital glaucoma was excluded in the affected sibs, and none had any systemic involvement. </p><p>In 3 affected sibs from a consanguineous Moroccan family with megalocornea, microspherophakia, ectopia lentis, and secondary glaucoma mapping to chromosome 14q23.3-q24.3, Desir et al. (2010) analyzed the candidate gene LTBP2 and identified homozygosity for a 1-bp insertion (602091.0008). In a similarly affected girl of Macedonian Gypsy origin, they identified homozygosity for the R299X mutation in LTBP2, previously identified in patients with primary congenital glaucoma, including patients of European Gypsy origin. </p><p>In 8 affected individuals from 3 consanguineous families with megalocornea and secondary glaucoma due to spherophakia and/or ectopia lentis, Khan et al. (2011) identified homozygosity for a 1-bp deletion, a nonsense mutation, and a missense mutation (602091.0009-602091.0011, respectively). </p><p><strong><em>Weill-Marchesani Syndrome 3</em></strong></p><p>
|
|
In affected members of a large consanguineous Iranian family with Weill-Marchesani syndrome (WMS3; 614819), Haji-Seyed-Javadi et al. (2012) identified homozygosity for a missense mutation (V1177M; 602091.0012) in the LTBP2 gene. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Shipley et al. (2000) targeted disruption of Ltbp2 in mice. All died between embryonic day 3.5 and 6.5. Ali et al. (2009) found expression of mouse Ltbp2 in connective tissue throughout the body and in particular spinal cord, cardiac, and skeletal muscles as well as renal and seminiferous tubules. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Nomenclature</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The symbol LTBP3 was formerly used for LTBP2 in the literature, but LTBP3 is the official symbol for a different LTBP gene; see 602090.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>12 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 GLAUCOMA 3, PRIMARY CONGENITAL, D</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, INCLUDED
|
|
</span>
|
|
</div>
|
|
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<div>
|
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<span class="mim-text-font">
|
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|
|
LTBP2, ARG299TER
|
|
|
|
|
|
<br />
|
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|
|
SNP: rs121918355,
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|
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gnomAD: rs121918355,
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|
|
ClinVar: RCV000007990, RCV000024324, RCV001311363, RCV003313914
|
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|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Pakistani family with congenital glaucoma (GLC3D; 613086), Ali et al. (2009) identified homozygosity for a C-to-T transition at nucleotide 895 in exon 4 of the LTBP2 gene, resulting in an arg-to-ter substitution at codon 299 (R299X). </p><p>Ali et al. (2009) also identified this mutation in 8 of 15 CYP1B1 (601771)-negative Gypsy patients. The authors suggested that R299X is the major founder mutation in the Gypsy population, accounting for more than 50% of CYP1B1-negative and nearly 40% of all PCG cases in that population. </p><p>In 12 Roma/Gypsy probands with congenital glaucoma, Azmanov et al. (2011) identified homozygosity for the R299X founder mutation. In an additional patient, they identified compound heterozygosity for R299X and a missense mutation in the CYP1B1 gene (R368H; 601771.0012). However, the authors stated that their preliminary observations suggested that CYP1B1/LTBP2 combinations in this and other patients were of no clinical significance and that digenic inheritance was unlikely. </p><p>In a 3-year-old girl of Macedonian Gypsy origin with megalocornea, microspherophakia, and lens dislocation (MSPKA; 251750), Desir et al. (2010) identified homozygosity for the R299X mutation in the LTBP2 gene. Her unaffected parents were heterozygous for the mutation, which was not found in 100 Caucasian controls. When initially seen at 2 years of age, she had normal eye pressures, and still had not developed glaucoma at 3 years of age. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 GLAUCOMA 3, PRIMARY CONGENITAL, D</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
LTBP2, 1-BP DEL, 412G
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|
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|
|
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<br />
|
|
|
|
SNP: rs1566660365,
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|
|
ClinVar: RCV000007991
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Pakistani family with congenital glaucoma (GLC3D; 613086), Ali et al. (2009) identified homozygosity for a single-nucleotide deletion at position 412 in exon 1 of the LTBP2 gene (412delG) resulting in a frameshift and leading to a putative stop codon 140 amino acids downstream (Ala138ProfsTer278). </p>
|
|
</span>
|
|
</div>
|
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 GLAUCOMA 3, PRIMARY CONGENITAL, D</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LTBP2, 14-BP DEL, NT1243
|
|
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|
|
<br />
|
|
|
|
SNP: rs1566635134,
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|
|
|
|
|
ClinVar: RCV000007992
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|
|
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</span>
|
|
</div>
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Pakistani family with congenital glaucoma (GLC3D; 613086), Ali et al. (2009) identified homozygosity for a 14-bp deletion in exon 6 of the LTBP2 gene beginning at nucleotide 1243 (1243-1256del), resulting in frameshift and premature protein termination (Glu415ArgfsTer596). </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0004 GLAUCOMA 3, PRIMARY CONGENITAL, D</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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LTBP2, GLN111TER
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<br />
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|
|
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SNP: rs121918356,
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|
|
ClinVar: RCV000007993
|
|
|
|
|
|
</span>
|
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Pakistani family with congenital glaucoma (GLC3D; 613086), Ali et al. (2009) identified homozygosity for a C-to-T transition at nucleotide 331 in exon 1 of the LTBP2 gene, resulting in a gln-to-ter substitution at codon 111 (Q111X). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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|
<span class="mim-font">
|
|
<strong>.0005 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA</strong>
|
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</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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LTBP2, 1-BP INS, 5446C
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<br />
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SNP: rs777661862,
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|
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gnomAD: rs777661862,
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ClinVar: RCV000007994
|
|
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|
|
</span>
|
|
</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 3 affected brothers from a consanguineous Indian family with microspherophakia and lens dislocation (MSPKA; 251750), Kumar et al. (2010) identified homozygosity for a 1-bp insertion (5446insC) in exon 36 of the LTBP2 gene, predicted to elongate the LTBP2 protein by replacing the last 6 amino acids with 27 novel amino acids. </p>
|
|
</span>
|
|
</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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|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GLAUCOMA 3, PRIMARY CONGENITAL, D</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
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|
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|
LTBP2, 1-BP DEL, 1415C
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<br />
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|
|
SNP: rs1566634475,
|
|
|
|
|
|
|
|
ClinVar: RCV000007995
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a consanguineous Iranian family with primary congenital glaucoma (GLC3D; 613086), Narooie-Nejad et al. (2009) identified a homozygous 1-bp deletion (1415delC) in exon 7 of the LTBP2 gene, resulting in a frameshift and premature termination. The deletion was not identified in 400 control individuals. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GLAUCOMA 3, PRIMARY CONGENITAL, D</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LTBP2, 1-BP DEL, 5376C
|
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|
|
<br />
|
|
|
|
SNP: rs137854895,
|
|
|
|
|
|
|
|
ClinVar: RCV000007996, RCV000114816
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a consanguineous Iranian family with primary congenital glaucoma (GLC3D; 613086), Narooie-Nejad et al. (2009) identified a homozygous 1-bp deletion (5376delC) in exon 36 of the LTBP2 gene, resulting in the addition of 28 amino acids to the C terminus of the protein. The deletion was not identified in 400 control individuals. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LTBP2, 1-BP DUP, 1796C
|
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|
|
|
<br />
|
|
|
|
SNP: rs1566628109,
|
|
|
|
|
|
|
|
ClinVar: RCV000024325
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a brother and 2 sisters from a consanguineous Moroccan family with microspherophakia, megalocornea, lens dislocation, and secondary glaucoma (MSPKA; 251750), Desir et al. (2010) identified homozygosity for a 1-bp duplication (1796dupC) in exon 9 of the LTBP2 gene, causing a frameshift predicted to result in a premature termination codon (Val600GlyfsTer4). Their unaffected parents were heterozygous for the mutation, which was not found in 100 Moroccan controls. Analysis of mRNA from patient and control fibroblasts showed results consistent with nonsense-mediated mRNA decay. The oldest sib, a 14-year-old boy, displayed some marfanoid features (see Marfan syndrome, 154700) including arm span greater than height, decreased upper-to-lower body ratio, and high-arched palate. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LTBP2, 1-BP DEL, 1012T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1566636728,
|
|
|
|
|
|
|
|
ClinVar: RCV000024326
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 male cousins, 2 years and 14 years old, from a consanguineous Saudi Arabian family with megalocornea, lens dislocation, and secondary glaucoma (MSPKA; 251750), Khan et al. (2011) identified homozygosity for a 1-bp deletion (1012delT) in exon 4 of the LTBP2 gene, causing a frameshift predicted to result in a premature termination codon (Ser338ProfsTer2). Their unaffected parents were all heterozygous for the mutation. The older boy was tall and thin with a relatively high-arched palate, but there were no other features to suggest Marfan syndrome (154700). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LTBP2, GLN1619TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387907174,
|
|
|
|
|
|
|
|
ClinVar: RCV000024327
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers from a consanguineous Saudi Arabian family with microspherophakia, megalocornea, lens dislocation, and secondary glaucoma (MSPKA; 251750), Khan et al. (2011) identified homozygosity for a 4855C-T transition in exon 33 of the LTBP2 gene, resulting in a gln1619-to-ter (Q1619X) substitution. Their unaffected parents were heterozygous for the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LTBP2, CYS1438TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387907175,
|
|
|
|
|
|
|
|
ClinVar: RCV000024328, RCV003338387, RCV003987333
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers from a consanguineous Saudi Arabian family with megalocornea, lens dislocation, and secondary glaucoma (MSPKA; 251750), 1 of whom also had microspherophakia, Khan et al. (2011) identified homozygosity for a 4313G-A transition in exon 29 of the LTBP2 gene, resulting in a cys1438-to-tyr (C1438Y) substitution at a conserved residue. Their affected father and an affected paternal aunt were also homozygous for the mutation, which was found in heterozygosity in the boys' unaffected mother but was not present in 100 ethnically matched controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 WEILL-MARCHESANI SYNDROME 3 (1 family)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LTBP2, VAL1177MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137854856,
|
|
|
|
|
|
gnomAD: rs137854856,
|
|
|
|
|
|
ClinVar: RCV000030740, RCV000114810
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an affected brother and sister and their affected cousin from a large consanguineous Iranian family with Weill-Marchesani syndrome (WMS3; 614819), Haji-Seyed-Javadi et al. (2012) identified homozygosity for a 3529G-A transition in exon 24 of the LTBP2 gene, resulting in a val1177-to-met (V1177M) substitution at a highly conserved residue within the consensus calcium-binding sequence of the ninth calcium-binding epidermal growth factor (131530)-like motif. The mutation was also present in homozygosity in 3 more affected relatives who displayed some features of Weill-Marchesani syndrome but had no ocular abnormalities. Unaffected family members were either heterozygous or homozygous for wildtype LTBP2, and the mutation was not found in 400 ethnically matched controls. Histologic examination of the extracellular matrix (ECM) of skin fibroblasts from the proband revealed elastic fibers that appeared clumped and fragmented compared to a control, and electron micrography showed obvious disruption of the ECM in the patient's skin, with notable reduction in abundance of collagen fibers and increased space between adjacent fibers of the patient. Haji-Seyed-Javadi et al. (2012) concluded that the V1177M mutation disrupts microfibrils and causes changes in the substructure of the ECM. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ali, M., McKibbin, M., Booth, A., Parry, D. A., Jain, P., Riazuddin, S. A., Hejtmancik, J. F., Khan, S. N., Firasat, S., Shires, M., Gilmour, D. F., Towns, K., and 12 others.
|
|
<strong>Null mutations in LTBP2 cause primary congenital glaucoma.</strong>
|
|
Am. J. Hum. Genet. 84: 664-671, 2009.
|
|
|
|
|
|
[PubMed: 19361779]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2009.03.017]
|
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|
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Azmanov, D. N., Dimitrova, S., Florez, L., Cherninkova, S., Draganov, D., Morar, B., Saat, R., Juan, M., Arostegui, J. I., Ganguly, S., Soodyall, H., Chakrabarti, S., and 10 others.
|
|
<strong>LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.</strong>
|
|
Europ. J. Hum. Genet. 19: 326-333, 2011.
|
|
|
|
|
|
[PubMed: 21081970]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2010.181]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Desir, J., Sznajer, Y., Depasse, F., Roulez, F., Schrooyen, M., Meire, F., Abramowicz, M.
|
|
<strong>LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.</strong>
|
|
Europ. J. Hum. Genet. 18: 761-767, 2010.
|
|
|
|
|
|
[PubMed: 20179738]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2010.11]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Haji-Seyed-Javadi, R., Jelodari-Mamaghani, S., Paylakhi, S. H., Yazdani, S., Nilforushan, N., Fan, J.-B., Klotzle, B., Mahmoudi, M. J., Ebrahimian, M. J., Chelich, N., Taghiabadi, E., Kamyab, K., Boileau, C., Paisan-Ruiz, C., Ronaghi, M., Elahi, E.
|
|
<strong>LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.</strong>
|
|
Hum. Mutat. 33: 1182-1187, 2012.
|
|
|
|
|
|
[PubMed: 22539340]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.22105]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Khan, A. O., Aldahmesh, M. A., Alkuraya, F. S.
|
|
<strong>Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma--a distinct phenotype caused by recessive LTBP2 mutations.</strong>
|
|
Molec. Vis. 17: 2570-2579, 2011.
|
|
|
|
|
|
[PubMed: 22025892]
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kumar, A., Duvvari, M. R., Prabhakaran, V. C., Shetty, J. S., Murthy, G. J., Blanton, S. H.
|
|
<strong>A homozygous mutation in LTBP2 causes isolated microspherophakia.</strong>
|
|
Hum. Genet. 128: 365-371, 2010.
|
|
|
|
|
|
[PubMed: 20617341]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-010-0858-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Moren, A., Olofsson, A., Stenman, G., Sahlin, P., Kanzaki, T., Claesson-Welsh, L., ten Dijke, P., Miyazono, K., Heldin, C.-H.
|
|
<strong>Identification and characterization of LTBP-2, a novel latent transforming growth factor-beta-binding protein.</strong>
|
|
J. Biol. Chem. 269: 32469-32478, 1994.
|
|
|
|
|
|
[PubMed: 7798248]
|
|
|
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Narooie-Nejad, M., Paylakhi, S. H., Shojaee, S., Fazlali, Z., Kanavi, M. R., Nilforushan, N., Yazdani, S., Babrzadeh, F., Suri, F., Ronaghi, M., Elahi, E., Paisan-Ruiz, C.
|
|
<strong>Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.</strong>
|
|
Hum. Molec. Genet. 18: 3969-3977, 2009.
|
|
|
|
|
|
[PubMed: 19656777]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddp338]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Oklu, R., Hesketh, R.
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<strong>The latent transforming growth factor beta binding protein (LTBP) family.</strong>
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Biochem. J. 352: 601-610, 2000.
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[PubMed: 11104663]
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</p>
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Shipley, J. M., Mecham, R. P., Maus, E., Bonadio, J., Rosenbloom, J., McCarthy, R. T., Baumann, M. L., Frankfater, C., Segade, F., Shapiro, S. D.
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<strong>Developmental expression of latent transforming growth factor beta binding protein 2 and its requirement early in mouse development.</strong>
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Molec. Cell. Biol. 20: 4879-4887, 2000.
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[PubMed: 10848613]
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[Full Text: https://doi.org/10.1128/MCB.20.13.4879-4887.2000]
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Marla J. F. O'Neill - updated : 9/13/2012<br>Marla J. F. O'Neill - updated : 6/1/2012<br>Marla J. F. O'Neill - updated : 6/21/2011<br>George E. Tiller - updated : 8/6/2010<br>Marla J. F. O'Neill - updated : 8/5/2010<br>Ada Hamosh - updated : 10/6/2009<br>Patricia A. Hartz - updated : 3/11/2002<br>Ada Hamosh - edited : 6/11/1999
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Victor A. McKusick : 10/27/1997
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