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- *602090 - LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 3; LTBP3
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- OMIM
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<p>
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<span class="h4">*602090</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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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>
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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="#nomenclature">Nomenclature</a>
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<a href="#animalModel">Animal Model</a>
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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/602090">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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<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=ENSG00000168056;t=ENST00000301873" 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=4054" 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=602090" 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=ENSG00000168056;t=ENST00000301873" 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_001130144,NM_001164266,NM_021070" 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_001130144" 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=602090" 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=03649&isoform_id=03649_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/LTBP3" 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/2282066,5912086,18027800,18466810,18466812,18497288,38014154,116242623,119594807,119594808,119594809,119594810,119594811,193784893,194328809,194385148,194387868,223460810,256017124,929654613" 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/Q9NS15" 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=4054" 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=ENSG00000168056;t=ENST00000301873" 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=LTBP3" 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=LTBP3" 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+4054" 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/LTBP3" 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:4054" 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/4054" 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=chr11&hgg_gene=ENST00000301873.11&hgg_start=65538559&hgg_end=65558359&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602090[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=602090[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://www.deciphergenomics.org/gene/LTBP3/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000168056" 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=LTBP3" 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=LTBP3" 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=LTBP3" 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=LTBP3&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/PA30479" 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:6716" 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:1101355" 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/LTBP3#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:1101355" 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/4054/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/OMIA002485/" 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=4054" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060526-130" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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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=LTBP3&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 716195006<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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602090
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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 3; LTBP3
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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">
|
|
LTBP2, 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=LTBP3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LTBP3</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">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/11/595?start=-3&limit=10&highlight=595">11q13.1</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:65538559-65558359&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'})">11:65,538,559-65,558,359</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>
|
|
Phenotype
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|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=601216,617809" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</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>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
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<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/595?start=-3&limit=10&highlight=595">
|
|
11q13.1
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Dental anomalies and short stature
|
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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/601216"> 601216 </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">
|
|
Geleophysic dysplasia 3
|
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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/617809"> 617809 </a>
|
|
|
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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="Autosomal dominant">AD</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>
|
|
</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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/602090" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/602090" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
|
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<h4>
|
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<p>Transforming growth factors (TGFs) beta-1 (<a href="/entry/190180">190180</a>), beta-2 (<a href="/entry/190220">190220</a>), beta-3 (<a href="/entry/190230">190230</a>), and others have both stimulatory and inhibitory effects on the growth of different cell types and play a role in the production and degradation of the extracellular matrix. TGF-beta molecules are secreted in the form of latent large molecular mass complexes that contain other proteins, such as latent TGF-beta-1 binding protein (LTBP1; <a href="/entry/150390">150390</a>). There is evidence that these binding proteins modulate TGF-beta bioavailability.</p><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="#11" class="mim-tip-reference" title="Yin, W., Smiley, E., Germiller, J., Mechan, R. P., Florer, J. B., Wenstrup, R. J., Bonadio, J. <strong>Isolation of a novel latent transforming growth factor-beta binding protein gene (LTBP-3).</strong> J. Biol. Chem. 270: 10147-10160, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7730318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7730318</a>] [<a href="https://doi.org/10.1074/jbc.270.17.10147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7730318">Yin et al. (1995)</a> cloned a novel mouse gene, designated Ltbp3, isolated because of structural similarities to fibrillin (<a href="/entry/134797">134797</a>). Its 4.6-kb transcript was found to encode a protein sequence related to LTBP1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7730318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using in situ hybridization, <a href="#5" class="mim-tip-reference" title="Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others. <strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong> Hum. Molec. Genet. 24: 3038-3049, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25669657">Huckert et al. (2015)</a> analyzed mouse embryos at embryonic day (E) 14.5, E16.5, and E18.5, and observed Ltpb3 expression in various developing bones undergoing either endochondral or intramembranous ossification, including vertebrae, mandibular bone, and base of skull. Expression was also detected in the ventricular and subventricular zones of developing brain vesicles, and in cells surrounding the lumen of the neural tube. Discrete expression was observed in the developing inner ear (cochlea), as well as in the small and large intestine, with the most conspicuous expression at the base of the intestinal crypts. Discrete expression was also observed in the heart outflow tract and in the walls of large blood vessels such as the aorta and pulmonary artery. <a href="#5" class="mim-tip-reference" title="Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others. <strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong> Hum. Molec. Genet. 24: 3038-3049, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25669657">Huckert et al. (2015)</a> also investigated Ltbp3 expression during tooth development, observing transcripts in cap-stage teeth of mice at E14.5 and in the epithelial and mesenchymal compartments of bell-stage teeth at E16.5, especially in the most differentiated areas, such as the molar cusp tips and the rostral part of the incisors. At E18.5, labeling was seen in differentiating ameloblasts and odontoblasts, with transcripts scattered at the apical secretory pole of ameloblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25669657" 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="#6" class="mim-tip-reference" title="Li, X., Yin, W., Perez-Jurado, L., Bonadio, J., Francke, U. <strong>Mapping of human and murine genes for latent TGF-beta binding protein-2 (LTBP2).</strong> Mammalian Genome 6: 42-45, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719025</a>] [<a href="https://doi.org/10.1007/BF00350892" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7719025">Li et al. (1995)</a> assigned the human and mouse LTBP3 loci (called LTBP2 and Ltbp2 by them) to regions of conserved synteny on human chromosome 11 and mouse chromosome 19. By PCR analysis of somatic cell hybrid DNA and fluorescence in situ hybridization (FISH), the genes were mapped to human 11q12 and mouse chromosome 19B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7719025" 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="#10" class="mim-tip-reference" title="Sawicki, M., Arnold, E., Ebrahimi, S., Duell, T., Jin, S., Wood, T., Chakrabarti, R., Peters, J., Wan, Y., Samara, G., Weier, H.-U. G., Udar, N., Passaro, E., Jr., Srivatsan, E. S. <strong>A transcript map encompassing the multiple endocrine neoplasia type-1 (MEN1) locus on chromosome 11q13.</strong> Genomics 42: 405-412, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205112</a>] [<a href="https://doi.org/10.1006/geno.1997.4773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9205112">Sawicki et al. (1997)</a> identified the sequence of the human LTBP3 gene on a transcript map encompassing the locus for MEN I (MEN1; <a href="/entry/131100">131100</a>) on chromosome 11q13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205112" 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>Dental Anomalies and Short Stature</em></strong></p><p>
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In affected members of a consanguineous Pakistani family with selective tooth agenesis and short stature (DASS; <a href="/entry/601216">601216</a>), <a href="#8" class="mim-tip-reference" title="Noor, A., Windpassinger, C., Vitcu, I., Orlic, M., Rafiq, M. A., Khalid, M., Malik, M. N., Ayub, M., Alman, B., Vincent, J. B. <strong>Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.</strong> Am. J. Hum. Genet. 84: 519-523, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19344874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19344874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19344874[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.2009.03.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19344874">Noor et al. (2009)</a> identified a homozygous nonsense mutation in the LTBP3 gene (Y744X; <a href="#0001">602090.0001</a>). Two affected males were examined in detail. The phenotype was characterized by absence of many of the permanent teeth, as well as apparent increased bone density in the spine and skull base. The findings suggested an important role for LTBP3-mediated transcription in development of the axial skeleton. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19344874" 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 Emirati sisters with complete agenesis of permanent dentition and short stature, <a href="#3" class="mim-tip-reference" title="Dugan, S. L., Temme, R. T., Olson, R. A., Mikhailov, A., Law, R., Mahmood, H., Noor, A., Vincent, J. B. <strong>New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.</strong> Am. J. Med. Genet. 167A: 1396-1399, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25899461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25899461</a>] [<a href="https://doi.org/10.1002/ajmg.a.37049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25899461">Dugan et al. (2015)</a> sequenced the LTBP3 gene and identified homozygosity for a 1-bp insertion (<a href="#0002">602090.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25899461" 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 4 families segregating autosomal recessive amelogenesis imperfecta, short stature, and variable degrees of platyspondyly, <a href="#5" class="mim-tip-reference" title="Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others. <strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong> Hum. Molec. Genet. 24: 3038-3049, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25669657">Huckert et al. (2015)</a> identified biallelic mutations in the LTBP3 gene in all affected individuals (<a href="#0003">602090.0003</a>-<a href="#0007">602090.0007</a>). None of the mutations, which segregated with disease in the respective families, were found in the Exome Variant Server or 1000 Genomes Project databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25669657" 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 affected individuals from 2 unrelated families with DASS and aneurysmal aortic and arterial disease, <a href="#4" class="mim-tip-reference" title="Guo, D., Regalado, E. S., Pinard, A., Chen, J., Lee, K., Rigelsky, C., Zilberberg, L., Hostetler, E. M., Aldred, M., Wallace, S. E., Prakash, S. K., University of Washington Center for Mendelian Genomics, Leal, S. M., Bamshad, M. J., Nickerson, D. A., Natowicz, Rifkin, D. B., Milewicz, D. M. <strong>LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections.</strong> Am. J. Hum. Genet. 102: 706-712, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29625025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29625025</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29625025">Guo et al. (2018)</a> identified homozygous or compound heterozygous mutations in the LTBP3 gene (see, e.g., <a href="#0011">602090.0011</a>-<a href="#0012">602090.0012</a>). In 1 of the families, some heterozygous individuals developed aneurysmal disease at older ages, and in a cohort of 338 sporadic patients with nonsyndromic thoracic aortic dissections, the authors detected heterozygous LTBP3 rare variants in 9 patients. <a href="#4" class="mim-tip-reference" title="Guo, D., Regalado, E. S., Pinard, A., Chen, J., Lee, K., Rigelsky, C., Zilberberg, L., Hostetler, E. M., Aldred, M., Wallace, S. E., Prakash, S. K., University of Washington Center for Mendelian Genomics, Leal, S. M., Bamshad, M. J., Nickerson, D. A., Natowicz, Rifkin, D. B., Milewicz, D. M. <strong>LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections.</strong> Am. J. Hum. Genet. 102: 706-712, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29625025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29625025</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29625025">Guo et al. (2018)</a> concluded that biallelic mutations in LTBP3 are associated with risk for thoracic aortic aneurysms and dissections and other arterial aneurysms, in addition to the previously reported skeletal and dental defects, whereas heterozygous LTBP3 mutations might be associated with increased risk for later-onset thoracic aortic disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29625025" 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>Geleophysic Dysplasia 3</em></strong></p><p>
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In a mother and her 2 sons who showed features consistent with mild geleophysic dysplasia (GPHYSD3; <a href="/entry/617809">617809</a>), <a href="#7" class="mim-tip-reference" title="McInerney-Leo, A. M., Le Goff, C., Leo, P. J., Kenna, T. J., Keith, P., Harris, J. E., Steer, R., Bole-Feysot, C., Nitschke, P., Kielty, C., Brown, M. A., Zankl, A., Duncan, E. L., Cormier-Diare, V. <strong>Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.</strong> J. Med. Genet. 53: 457-464, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27068007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27068007</a>] [<a href="https://doi.org/10.1136/jmedgenet-2015-103647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27068007">McInerney-Leo et al. (2016)</a> identified heterozygosity for a missense mutation in the LTBP3 gene (S696C; <a href="#0008">602090.0008</a>). In 2 unrelated boys diagnosed with geleophysic dysplasia, who died in early childhood from respiratory failure, <a href="#7" class="mim-tip-reference" title="McInerney-Leo, A. M., Le Goff, C., Leo, P. J., Kenna, T. J., Keith, P., Harris, J. E., Steer, R., Bole-Feysot, C., Nitschke, P., Kielty, C., Brown, M. A., Zankl, A., Duncan, E. L., Cormier-Diare, V. <strong>Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.</strong> J. Med. Genet. 53: 457-464, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27068007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27068007</a>] [<a href="https://doi.org/10.1136/jmedgenet-2015-103647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27068007">McInerney-Leo et al. (2016)</a> identified heterozygosity for a stop-loss mutation (<a href="#0009">602090.0009</a>) and a splice site mutation (<a href="#0010">602090.0010</a>) in LTBP3, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27068007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The official designation for the gene mapped to human chromosome 11 by <a href="#6" class="mim-tip-reference" title="Li, X., Yin, W., Perez-Jurado, L., Bonadio, J., Francke, U. <strong>Mapping of human and murine genes for latent TGF-beta binding protein-2 (LTBP2).</strong> Mammalian Genome 6: 42-45, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719025</a>] [<a href="https://doi.org/10.1007/BF00350892" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7719025">Li et al. (1995)</a> is LTBP3. An LTBP gene mapped to chromosome 14 and previously designated LTBP3 in the literature is symbolized LTBP2; see <a href="/entry/602091">602091</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7719025" 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="#2" class="mim-tip-reference" title="Dabovic, B., Chen, Y., Colarossi, C., Obata, H., Zambuto, L., Perle, M. A., Rifkin, D. B. <strong>Bone abnormalities in latent TGF-beta binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-beta bioavailability.</strong> J. Cell Biol. 156: 227-232, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11790802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11790802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11790802[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/10.1083/jcb.200111080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11790802">Dabovic et al. (2002)</a> created an Ltbp3-null mutation in the mouse by gene targeting. Mice homozygous for the mutation developed craniofacial malformations by day 10. At 2 months, there was a pronounced rounding of the cranial vault, extension of the mandible beyond the maxilla, and kyphosis. Between 6 and 9 months of age, mutant mice also developed osteosclerosis and osteoarthritis. The pathologic changes were consistent with perturbed TGF-beta (<a href="/entry/190180">190180</a>) signaling in the skull and long bones. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11790802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using direct lineage tracing and loss-of-function studies in zebrafish, <a href="#12" class="mim-tip-reference" title="Zhou, Y., Cashman, T. J., Nevis, K. R., Obregon, P., Carney, S. A., Liu, Y., Gu, A., Mosimann, C., Sondalle, S., Peterson, R. E., Heideman, W., Burns, C. E., Burns, C. G. <strong>Latent TGF-beta binding protein 3 identifies a second heart field in zebrafish.</strong> Nature 474: 645-648, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21623370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21623370</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21623370[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/nature10094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21623370">Zhou et al. (2011)</a> demonstrated that Ltbp3 transcripts mark a field of cardiac progenitor cells with defining characteristics of the anterior second heart field in mammals. Specifically, Ltbp3+ cells differentiate in pharyngeal mesoderm after formation of the heart tube, elongate the heart tube at the outflow pole, and give rise to 3 cardiovascular lineages in the outflow tract and myocardium in the distal ventricle. In addition to expressing Ltbp3, a protein that regulates the bioavailability of TGF-beta ligands, zebrafish second heart field cells coexpress nkx2.5 (<a href="/entry/600584">600584</a>), an evolutionarily conserved marker of cardiac progenitor cells in both fields. Embryos devoid of ltbp3 lacked the same cardiac structures derived from ltbp3+ cells due to compromised progenitor proliferation. Furthermore, small molecule inhibition of TGF-beta signaling phenocopied the ltbp3-morphant phenotype whereas expression of a constitutively active TGF-beta type I receptor rescued it. <a href="#12" class="mim-tip-reference" title="Zhou, Y., Cashman, T. J., Nevis, K. R., Obregon, P., Carney, S. A., Liu, Y., Gu, A., Mosimann, C., Sondalle, S., Peterson, R. E., Heideman, W., Burns, C. E., Burns, C. G. <strong>Latent TGF-beta binding protein 3 identifies a second heart field in zebrafish.</strong> Nature 474: 645-648, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21623370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21623370</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21623370[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/nature10094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21623370">Zhou et al. (2011)</a> concluded that their results uncovered a requirement for ltbp3-TGF-beta signaling during zebrafish second heart field development, a process that serves to enlarge the single ventricular chamber in this species. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21623370" 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 Ltbp3 -/- mice, <a href="#5" class="mim-tip-reference" title="Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others. <strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong> Hum. Molec. Genet. 24: 3038-3049, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25669657">Huckert et al. (2015)</a> observed enamel defects, with very thin to absent enamel in both incisors and molars, as well as relative class III mandibular prognathism due to maxillary underdevelopment. Histologic analysis of continuously growing incisor enamel organ revealed a mostly cohesive but occasionally nonpalisadic ameloblast layer facing a thinner disorganized enamel matrix, which confirmed amelogenic dysfunction at the cellular level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25669657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121909145 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909145;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/rs121909145?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=rs121909145" 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=rs121909145" 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 selective tooth agenesis and short stature (DASS; <a href="/entry/601216">601216</a>), <a href="#8" class="mim-tip-reference" title="Noor, A., Windpassinger, C., Vitcu, I., Orlic, M., Rafiq, M. A., Khalid, M., Malik, M. N., Ayub, M., Alman, B., Vincent, J. B. <strong>Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.</strong> Am. J. Hum. Genet. 84: 519-523, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19344874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19344874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19344874[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.2009.03.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19344874">Noor et al. (2009)</a> identified a homozygous 2322C-G transversion in the LTBP3 gene, resulting in a tyr744-to-ter (Y744X) substitution. PCR analysis showed decreased mutant mRNA levels, consistent with nonsense-mediated mRNA decay. The mutation was not identified in 240 Pakistani controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19344874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 Emirati sisters with complete agenesis of permanent dentition and short stature (DASS; <a href="/entry/601216">601216</a>), who also exhibited mitral valve prolapse with mild insufficiency, <a href="#3" class="mim-tip-reference" title="Dugan, S. L., Temme, R. T., Olson, R. A., Mikhailov, A., Law, R., Mahmood, H., Noor, A., Vincent, J. B. <strong>New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.</strong> Am. J. Med. Genet. 167A: 1396-1399, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25899461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25899461</a>] [<a href="https://doi.org/10.1002/ajmg.a.37049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25899461">Dugan et al. (2015)</a> identified homozygosity for a 1-bp insertion (c.1858_1859insG, NM_021070.4) in exon 13 of the LTBP3 gene, causing a frameshift predicted to result in premature termination after 171 amino acids (Cys620TrpfsTer171). Analysis by real-time quantitative PCR indicated that nonsense-mediated decay was not significant and that truncated LTBP3, lacking 12 of 15 functional EGF (<a href="/entry/131530">131530</a>) domains, would be generated. The mutation was present in heterozygosity in the unaffected father; the unaffected mother and brothers were unavailable for study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25899461" 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">rs875989822 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs875989822;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=rs875989822" 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=rs875989822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 Turkish sisters with amelogenesis imperfecta and short stature (DASS; <a href="/entry/601216">601216</a>), who also exhibited generalized platyspondyly, <a href="#5" class="mim-tip-reference" title="Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others. <strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong> Hum. Molec. Genet. 24: 3038-3049, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25669657">Huckert et al. (2015)</a> identified homozygosity for a 14-bp deletion (c.2071_2084delTACCGGCTCAAAGC, NM_001130144.2) in exon 14 of the LTBP3 gene, causing a frameshift predicted to result in a prematurely terminated protein (Tyr691LeufsTer95) lacking the terminal 612 amino acids, including the EGF (<a href="/entry/131530">131530</a>)-like, TB, EGF-like calcium-binding, and IGF (<a href="/entry/147440">147440</a>)-binding domains. The mutation, which was located within a zone of homozygosity shared by the 2 affected sibs but not present in their unaffected brother or parents, was not found in the Exome Variant Server or 1000 Genomes Project databases. The 14-bp deletion did not appear to result in nonsense-medicated decay, as it was present in RNA extracted from a patient gingival biopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25669657" 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">rs796052116 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs796052116;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=rs796052116" 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=rs796052116" 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=RCV000186563" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000186563" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000186563</a>
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<p>In a French sister and brother with amelogenesis imperfecta and short stature (DASS; <a href="/entry/601216">601216</a>), who also exhibited mild platyspondyly, <a href="#5" class="mim-tip-reference" title="Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others. <strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong> Hum. Molec. Genet. 24: 3038-3049, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25669657">Huckert et al. (2015)</a> identified compound heterozygosity for a c.421C-T transition (c.421C-T, NM_001130144.2) in exon 2 of the LTBP3 gene, resulting in a gln141-to-ter (Q141X) substitution, and a splice site mutation (c.1531+1G-T; <a href="#0005">602090.0005</a>) in intron 8, predicted to cause in-frame skipping of exon 8. Their unaffected parents were unavailable for study. Neither mutation was found in the Exome Variant Server or 1000 Genomes Project databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25669657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs875989823 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs875989823;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/rs875989823?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=rs875989823" 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=rs875989823" 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=RCV000186564" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000186564" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000186564</a>
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<p>For discussion of the splice site mutation (c.1531+1G-T, NM_001130144.2) in the LTBP3 gene that was found in compound heterozygous state in sibs with amelogenesis imperfecta and short stature (DASS; <a href="/entry/601216">601216</a>) by <a href="#5" class="mim-tip-reference" title="Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others. <strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong> Hum. Molec. Genet. 24: 3038-3049, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25669657">Huckert et al. (2015)</a>, see <a href="#0004">602090.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25669657" 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>.0006 DENTAL ANOMALIES AND SHORT STATURE</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"><span class="text-primary">●</span> rs752375653 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs752375653;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/rs752375653?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=rs752375653" 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=rs752375653" 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=RCV000186565" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000186565" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000186565</a>
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<p>In a 12-year-old Brazilian boy with amelogenesis imperfecta and short stature (DASS; <a href="/entry/601216">601216</a>), who was originally described by <a href="#1" class="mim-tip-reference" title="Bertola, D. R., Antequera, R., Rodovalho, M. J., Honjo, R. S., Albano, L. M. J., Furquim, I. M., Oliveira, L. A., Kim, C. A. <strong>Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity.</strong> Am. J. Med. Genet. 149A: 532-534, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19213025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19213025</a>] [<a href="https://doi.org/10.1002/ajmg.a.32661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19213025">Bertola et al. (2009)</a> and who also exhibited delayed eruption of dentition and mild platyspondyly, <a href="#5" class="mim-tip-reference" title="Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others. <strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong> Hum. Molec. Genet. 24: 3038-3049, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25669657">Huckert et al. (2015)</a> identified homozygosity for a 1-bp deletion (c.2216_2217delG, NM_001130144.2) in exon 15 of the LTBP3 gene, causing a frameshift predicted to result in a premature termination codon (Gly739AlafsTer7). The deletion, which segregated with disease in the family, was not found in the Exome Variant Server or 1000 Genomes Project databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25669657+19213025" 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>.0007 DENTAL ANOMALIES AND SHORT STATURE</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">rs875989824 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs875989824;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=rs875989824" 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=rs875989824" 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=RCV000186566" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000186566" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000186566</a>
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<p>In 3 Pakistani sibs with amelogenesis imperfecta and short stature (DASS; <a href="/entry/601216">601216</a>), who also exhibited oligodontia, generalized platyspondyly, and scoliosis, <a href="#5" class="mim-tip-reference" title="Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others. <strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong> Hum. Molec. Genet. 24: 3038-3049, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25669657">Huckert et al. (2015)</a> identified homozygosity for a 1-bp deletion (c.2356_2357delG, NM_001130144.2) in exon 17 of the LTBP3 gene, causing a frameshift predicted to result in a premature termination codon (Val786TrpfsTer82). The mutation, which segregated with disease in the family, was not found in the Exome Variant Server or 1000 Genomes Project databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25669657" 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 GELEOPHYSIC DYSPLASIA 3</strong>
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LTBP3, SER696CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554974135 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554974135;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=rs1554974135" 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=rs1554974135" 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=RCV000523149" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000523149" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000523149</a>
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<p>In a mother (SKDP-4.2) and 2 sons (SKDP-4.4 and SKDP-4.3) with mild geleophysic dysplasia-3 (GPHYSD3; <a href="/entry/617809">617809</a>), <a href="#7" class="mim-tip-reference" title="McInerney-Leo, A. M., Le Goff, C., Leo, P. J., Kenna, T. J., Keith, P., Harris, J. E., Steer, R., Bole-Feysot, C., Nitschke, P., Kielty, C., Brown, M. A., Zankl, A., Duncan, E. L., Cormier-Diare, V. <strong>Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.</strong> J. Med. Genet. 53: 457-464, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27068007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27068007</a>] [<a href="https://doi.org/10.1136/jmedgenet-2015-103647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27068007">McInerney-Leo et al. (2016)</a> identified heterozygosity for a c.2087C-G transversion (c.2087C-G, NM_001130144) in exon 14 of the LTBP3 gene, resulting in a ser696-to-cys (S696C) substitution at a highly conserved residue in an EGF-like calcium-binding domain. The mutation was not found in the 2 of the mother's 5 unaffected sibs who underwent whole-exome sequencing. Patient fibroblasts were disorganized and irregular in size compared to control fibroblasts, but FBN1 (<a href="/entry/134797">134797</a>) staining intensity and pattern were similar to control. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27068007" 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">rs1554971742 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554971742;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=rs1554971742" 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=rs1554971742" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a boy (GD-1) with geleophysic dysplasia (GPHYSD3; <a href="/entry/617809">617809</a>), who died of respiratory failure at age 4 years, <a href="#7" class="mim-tip-reference" title="McInerney-Leo, A. M., Le Goff, C., Leo, P. J., Kenna, T. J., Keith, P., Harris, J. E., Steer, R., Bole-Feysot, C., Nitschke, P., Kielty, C., Brown, M. A., Zankl, A., Duncan, E. L., Cormier-Diare, V. <strong>Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.</strong> J. Med. Genet. 53: 457-464, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27068007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27068007</a>] [<a href="https://doi.org/10.1136/jmedgenet-2015-103647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27068007">McInerney-Leo et al. (2016)</a> identified heterozygosity for a de novo c.3912A-T transversion (c.3912A-T, NM_001130144.2) in exon 28 of the LTBP3 gene, resulting in loss of the normal stop codon (Ter1304CysExt12). The mutation was not present in his unaffected parents, in 200 ethnically matched controls or 5,483 in-house exomes, or in the ExAC, dbSNP (build 129), or 1000 Genomes Project databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27068007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1188540819 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1188540819;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/rs1188540819?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=rs1188540819" 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=rs1188540819" 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=RCV000520920" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000520920" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000520920</a>
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<p>In a boy (GD-2) with geleophysic dysplasia (GPHYSD3; <a href="/entry/617809">617809</a>), who died of respiratory failure at age 18 months, <a href="#7" class="mim-tip-reference" title="McInerney-Leo, A. M., Le Goff, C., Leo, P. J., Kenna, T. J., Keith, P., Harris, J. E., Steer, R., Bole-Feysot, C., Nitschke, P., Kielty, C., Brown, M. A., Zankl, A., Duncan, E. L., Cormier-Diare, V. <strong>Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.</strong> J. Med. Genet. 53: 457-464, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27068007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27068007</a>] [<a href="https://doi.org/10.1136/jmedgenet-2015-103647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27068007">McInerney-Leo et al. (2016)</a> identified heterozygosity for a de novo splice site mutation (c.1846+5G-A, NM_001130144.2) in intron 12 of the LTBP3 gene. The mutation was not present in his unaffected parents, in 200 ethnically matched controls or 5,483 in-house exomes, or in the ExAC, dbSNP (build 129), or 1000 Genomes Project databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27068007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1286042594 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1286042594;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/rs1286042594?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=rs1286042594" 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=rs1286042594" 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=RCV000627066 OR RCV001269742 OR RCV001291427" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000627066, RCV001269742, RCV001291427" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000627066...</a>
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<p>In a brother and 2 sisters with dental anomalies and short stature (DASS; <a href="/entry/601216">601216</a>), who also exhibited mitral valve prolapse and arterial aneurysmal disease, <a href="#4" class="mim-tip-reference" title="Guo, D., Regalado, E. S., Pinard, A., Chen, J., Lee, K., Rigelsky, C., Zilberberg, L., Hostetler, E. M., Aldred, M., Wallace, S. E., Prakash, S. K., University of Washington Center for Mendelian Genomics, Leal, S. M., Bamshad, M. J., Nickerson, D. A., Natowicz, Rifkin, D. B., Milewicz, D. M. <strong>LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections.</strong> Am. J. Hum. Genet. 102: 706-712, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29625025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29625025</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29625025">Guo et al. (2018)</a> identified compound heterozygosity for mutations in the LTBP3 gene: a 1-bp deletion (c.132delG, NM_001130144), causing a frameshift predicted to result in a premature termination codon (Pro45ArgfsTer25), and a c.2248G-T transversion, resulting in a glu750-to-ter (E750X; <a href="#0012">602090.0012</a>) substitution. Their unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in the gnomAD database. Both sisters exhibited mild mitral valve prolapse, and 1 sister also had aortic root dilation, whereas their brother had abdominal aortic aneurysm and visceral and peripheral arterial aneurysms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29625025" 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">rs1554973844 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554973844;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=rs1554973844" 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=rs1554973844" 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=RCV000627067 OR RCV001291428" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000627067, RCV001291428" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000627067...</a>
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<p>For discussion of the c.2248G-T transversion (c.2248G-T, NM_001130144) in the LTBP3 gene, resulting in a glu750-to-ter (E750X) substitution, that was found in compound heterozygous state in 3 sibs with dental anomalies and short stature (DASS; <a href="/entry/601216">601216</a>) by <a href="#4" class="mim-tip-reference" title="Guo, D., Regalado, E. S., Pinard, A., Chen, J., Lee, K., Rigelsky, C., Zilberberg, L., Hostetler, E. M., Aldred, M., Wallace, S. E., Prakash, S. K., University of Washington Center for Mendelian Genomics, Leal, S. M., Bamshad, M. J., Nickerson, D. A., Natowicz, Rifkin, D. B., Milewicz, D. M. <strong>LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections.</strong> Am. J. Hum. Genet. 102: 706-712, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29625025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29625025</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29625025">Guo et al. (2018)</a>, see <a href="#0011">602090.0011</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29625025" 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>Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19213025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19213025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19213025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32661" target="_blank">Full Text</a>]
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<div class="">
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11790802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11790802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11790802[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=11790802" 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/10.1083/jcb.200111080" target="_blank">Full Text</a>]
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<div class="">
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<p class="mim-text-font">
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<strong>New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.</strong>
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Am. J. Med. Genet. 167A: 1396-1399, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25899461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25899461</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25899461" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.37049" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Guo2018" class="mim-anchor"></a>
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<div class="">
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Guo, D., Regalado, E. S., Pinard, A., Chen, J., Lee, K., Rigelsky, C., Zilberberg, L., Hostetler, E. M., Aldred, M., Wallace, S. E., Prakash, S. K., University of Washington Center for Mendelian Genomics, Leal, S. M., Bamshad, M. J., Nickerson, D. A., Natowicz, Rifkin, D. B., Milewicz, D. M.
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<strong>LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29625025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29625025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29625025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2018.03.002" target="_blank">Full Text</a>]
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<a id="Huckert2015" class="mim-anchor"></a>
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Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others.
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<strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25669657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25669657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25669657[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=25669657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddv053" target="_blank">Full Text</a>]
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<a id="Li1995" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7719025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00350892" target="_blank">Full Text</a>]
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<a id="McInerney-Leo2016" class="mim-anchor"></a>
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McInerney-Leo, A. M., Le Goff, C., Leo, P. J., Kenna, T. J., Keith, P., Harris, J. E., Steer, R., Bole-Feysot, C., Nitschke, P., Kielty, C., Brown, M. A., Zankl, A., Duncan, E. L., Cormier-Diare, V.
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<strong>Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.</strong>
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J. Med. Genet. 53: 457-464, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27068007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27068007</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27068007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2015-103647" target="_blank">Full Text</a>]
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<a id="Noor2009" class="mim-anchor"></a>
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Noor, A., Windpassinger, C., Vitcu, I., Orlic, M., Rafiq, M. A., Khalid, M., Malik, M. N., Ayub, M., Alman, B., Vincent, J. B.
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<strong>Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.</strong>
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Am. J. Hum. Genet. 84: 519-523, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19344874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19344874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19344874[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=19344874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2009.03.007" target="_blank">Full Text</a>]
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Sawicki, M., Arnold, E., Ebrahimi, S., Duell, T., Jin, S., Wood, T., Chakrabarti, R., Peters, J., Wan, Y., Samara, G., Weier, H.-U. G., Udar, N., Passaro, E., Jr., Srivatsan, E. S.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205112</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205112" 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/10.1006/geno.1997.4773" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7730318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7730318</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7730318" 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/10.1074/jbc.270.17.10147" target="_blank">Full Text</a>]
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Zhou, Y., Cashman, T. J., Nevis, K. R., Obregon, P., Carney, S. A., Liu, Y., Gu, A., Mosimann, C., Sondalle, S., Peterson, R. E., Heideman, W., Burns, C. E., Burns, C. G.
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<strong>Latent TGF-beta binding protein 3 identifies a second heart field in zebrafish.</strong>
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Nature 474: 645-648, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21623370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21623370</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21623370[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=21623370" 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/nature10094" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 05/11/2018
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Marla J. F. O'Neill - updated : 12/13/2017<br>Marla J. F. O'Neill - updated : 7/27/2015<br>Ada Hamosh - updated : 8/26/2011<br>Cassandra L. Kniffin - updated : 10/20/2009<br>Patricia A. Hartz - updated : 3/11/2002
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Victor A. McKusick : 10/27/1997
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carol : 01/04/2018<br>alopez : 12/13/2017<br>carol : 08/18/2015<br>alopez : 7/28/2015<br>mcolton : 7/27/2015<br>alopez : 8/26/2011<br>carol : 2/9/2011<br>alopez : 10/20/2009<br>ckniffin : 10/20/2009<br>carol : 3/11/2002<br>carol : 3/1/2001<br>mgross : 3/21/2000<br>mark : 12/5/1997<br>terry : 10/28/1997<br>mark : 10/27/1997<br>mark : 10/27/1997
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LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 3; LTBP3
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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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LTBP2, 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: LTBP3</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 716195006;
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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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<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: 11q13.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:65,538,559-65,558,359 </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="2">
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<span class="mim-font">
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11q13.1
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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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Dental anomalies and short stature
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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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601216
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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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Geleophysic dysplasia 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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617809
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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 dominant
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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>Transforming growth factors (TGFs) beta-1 (190180), beta-2 (190220), beta-3 (190230), and others have both stimulatory and inhibitory effects on the growth of different cell types and play a role in the production and degradation of the extracellular matrix. TGF-beta molecules are secreted in the form of latent large molecular mass complexes that contain other proteins, such as latent TGF-beta-1 binding protein (LTBP1; 150390). There is evidence that these binding proteins modulate TGF-beta bioavailability.</p><p>See Oklu and Hesketh (2000) for a review of the LTBP gene family. </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>Yin et al. (1995) cloned a novel mouse gene, designated Ltbp3, isolated because of structural similarities to fibrillin (134797). Its 4.6-kb transcript was found to encode a protein sequence related to LTBP1. </p><p>Using in situ hybridization, Huckert et al. (2015) analyzed mouse embryos at embryonic day (E) 14.5, E16.5, and E18.5, and observed Ltpb3 expression in various developing bones undergoing either endochondral or intramembranous ossification, including vertebrae, mandibular bone, and base of skull. Expression was also detected in the ventricular and subventricular zones of developing brain vesicles, and in cells surrounding the lumen of the neural tube. Discrete expression was observed in the developing inner ear (cochlea), as well as in the small and large intestine, with the most conspicuous expression at the base of the intestinal crypts. Discrete expression was also observed in the heart outflow tract and in the walls of large blood vessels such as the aorta and pulmonary artery. Huckert et al. (2015) also investigated Ltbp3 expression during tooth development, observing transcripts in cap-stage teeth of mice at E14.5 and in the epithelial and mesenchymal compartments of bell-stage teeth at E16.5, especially in the most differentiated areas, such as the molar cusp tips and the rostral part of the incisors. At E18.5, labeling was seen in differentiating ameloblasts and odontoblasts, with transcripts scattered at the apical secretory pole of ameloblasts. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Li et al. (1995) assigned the human and mouse LTBP3 loci (called LTBP2 and Ltbp2 by them) to regions of conserved synteny on human chromosome 11 and mouse chromosome 19. By PCR analysis of somatic cell hybrid DNA and fluorescence in situ hybridization (FISH), the genes were mapped to human 11q12 and mouse chromosome 19B. </p><p>Sawicki et al. (1997) identified the sequence of the human LTBP3 gene on a transcript map encompassing the locus for MEN I (MEN1; 131100) on chromosome 11q13. </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">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
|
|
</div>
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|
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<span class="mim-text-font">
|
|
<p><strong><em>Dental Anomalies and Short Stature</em></strong></p><p>
|
|
In affected members of a consanguineous Pakistani family with selective tooth agenesis and short stature (DASS; 601216), Noor et al. (2009) identified a homozygous nonsense mutation in the LTBP3 gene (Y744X; 602090.0001). Two affected males were examined in detail. The phenotype was characterized by absence of many of the permanent teeth, as well as apparent increased bone density in the spine and skull base. The findings suggested an important role for LTBP3-mediated transcription in development of the axial skeleton. </p><p>In 2 Emirati sisters with complete agenesis of permanent dentition and short stature, Dugan et al. (2015) sequenced the LTBP3 gene and identified homozygosity for a 1-bp insertion (602090.0002). </p><p>In 4 families segregating autosomal recessive amelogenesis imperfecta, short stature, and variable degrees of platyspondyly, Huckert et al. (2015) identified biallelic mutations in the LTBP3 gene in all affected individuals (602090.0003-602090.0007). None of the mutations, which segregated with disease in the respective families, were found in the Exome Variant Server or 1000 Genomes Project databases. </p><p>In affected individuals from 2 unrelated families with DASS and aneurysmal aortic and arterial disease, Guo et al. (2018) identified homozygous or compound heterozygous mutations in the LTBP3 gene (see, e.g., 602090.0011-602090.0012). In 1 of the families, some heterozygous individuals developed aneurysmal disease at older ages, and in a cohort of 338 sporadic patients with nonsyndromic thoracic aortic dissections, the authors detected heterozygous LTBP3 rare variants in 9 patients. Guo et al. (2018) concluded that biallelic mutations in LTBP3 are associated with risk for thoracic aortic aneurysms and dissections and other arterial aneurysms, in addition to the previously reported skeletal and dental defects, whereas heterozygous LTBP3 mutations might be associated with increased risk for later-onset thoracic aortic disease. </p><p><strong><em>Geleophysic Dysplasia 3</em></strong></p><p>
|
|
In a mother and her 2 sons who showed features consistent with mild geleophysic dysplasia (GPHYSD3; 617809), McInerney-Leo et al. (2016) identified heterozygosity for a missense mutation in the LTBP3 gene (S696C; 602090.0008). In 2 unrelated boys diagnosed with geleophysic dysplasia, who died in early childhood from respiratory failure, McInerney-Leo et al. (2016) identified heterozygosity for a stop-loss mutation (602090.0009) and a splice site mutation (602090.0010) in LTBP3, respectively. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Nomenclature</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
|
|
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|
|
|
<span class="mim-text-font">
|
|
<p>The official designation for the gene mapped to human chromosome 11 by Li et al. (1995) is LTBP3. An LTBP gene mapped to chromosome 14 and previously designated LTBP3 in the literature is symbolized LTBP2; see 602091. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
<span class="mim-text-font">
|
|
<p>Dabovic et al. (2002) created an Ltbp3-null mutation in the mouse by gene targeting. Mice homozygous for the mutation developed craniofacial malformations by day 10. At 2 months, there was a pronounced rounding of the cranial vault, extension of the mandible beyond the maxilla, and kyphosis. Between 6 and 9 months of age, mutant mice also developed osteosclerosis and osteoarthritis. The pathologic changes were consistent with perturbed TGF-beta (190180) signaling in the skull and long bones. </p><p>Using direct lineage tracing and loss-of-function studies in zebrafish, Zhou et al. (2011) demonstrated that Ltbp3 transcripts mark a field of cardiac progenitor cells with defining characteristics of the anterior second heart field in mammals. Specifically, Ltbp3+ cells differentiate in pharyngeal mesoderm after formation of the heart tube, elongate the heart tube at the outflow pole, and give rise to 3 cardiovascular lineages in the outflow tract and myocardium in the distal ventricle. In addition to expressing Ltbp3, a protein that regulates the bioavailability of TGF-beta ligands, zebrafish second heart field cells coexpress nkx2.5 (600584), an evolutionarily conserved marker of cardiac progenitor cells in both fields. Embryos devoid of ltbp3 lacked the same cardiac structures derived from ltbp3+ cells due to compromised progenitor proliferation. Furthermore, small molecule inhibition of TGF-beta signaling phenocopied the ltbp3-morphant phenotype whereas expression of a constitutively active TGF-beta type I receptor rescued it. Zhou et al. (2011) concluded that their results uncovered a requirement for ltbp3-TGF-beta signaling during zebrafish second heart field development, a process that serves to enlarge the single ventricular chamber in this species. </p><p>In Ltbp3 -/- mice, Huckert et al. (2015) observed enamel defects, with very thin to absent enamel in both incisors and molars, as well as relative class III mandibular prognathism due to maxillary underdevelopment. Histologic analysis of continuously growing incisor enamel organ revealed a mostly cohesive but occasionally nonpalisadic ameloblast layer facing a thinner disorganized enamel matrix, which confirmed amelogenic dysfunction at the cellular level. </p>
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|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<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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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 DENTAL ANOMALIES AND SHORT STATURE</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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LTBP3, TYR744TER
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<br />
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SNP: rs121909145,
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gnomAD: rs121909145,
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ClinVar: RCV000007997
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Pakistani family with selective tooth agenesis and short stature (DASS; 601216), Noor et al. (2009) identified a homozygous 2322C-G transversion in the LTBP3 gene, resulting in a tyr744-to-ter (Y744X) substitution. PCR analysis showed decreased mutant mRNA levels, consistent with nonsense-mediated mRNA decay. The mutation was not identified in 240 Pakistani controls. </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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 DENTAL ANOMALIES AND SHORT STATURE</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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LTBP3, 1-BP INS, 1858G
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<br />
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SNP: rs878853262,
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ClinVar: RCV000186561
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Emirati sisters with complete agenesis of permanent dentition and short stature (DASS; 601216), who also exhibited mitral valve prolapse with mild insufficiency, Dugan et al. (2015) identified homozygosity for a 1-bp insertion (c.1858_1859insG, NM_021070.4) in exon 13 of the LTBP3 gene, causing a frameshift predicted to result in premature termination after 171 amino acids (Cys620TrpfsTer171). Analysis by real-time quantitative PCR indicated that nonsense-mediated decay was not significant and that truncated LTBP3, lacking 12 of 15 functional EGF (131530) domains, would be generated. The mutation was present in heterozygosity in the unaffected father; the unaffected mother and brothers were unavailable for study. </p>
|
|
</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>.0003 DENTAL ANOMALIES AND SHORT STATURE</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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LTBP3, 14-BP DEL, NT2071
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<br />
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SNP: rs875989822,
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ClinVar: RCV000186562
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</span>
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</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Turkish sisters with amelogenesis imperfecta and short stature (DASS; 601216), who also exhibited generalized platyspondyly, Huckert et al. (2015) identified homozygosity for a 14-bp deletion (c.2071_2084delTACCGGCTCAAAGC, NM_001130144.2) in exon 14 of the LTBP3 gene, causing a frameshift predicted to result in a prematurely terminated protein (Tyr691LeufsTer95) lacking the terminal 612 amino acids, including the EGF (131530)-like, TB, EGF-like calcium-binding, and IGF (147440)-binding domains. The mutation, which was located within a zone of homozygosity shared by the 2 affected sibs but not present in their unaffected brother or parents, was not found in the Exome Variant Server or 1000 Genomes Project databases. The 14-bp deletion did not appear to result in nonsense-medicated decay, as it was present in RNA extracted from a patient gingival biopsy. </p>
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|
</span>
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</div>
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 DENTAL ANOMALIES AND SHORT STATURE</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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LTBP3, GLN141TER
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<br />
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SNP: rs796052116,
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ClinVar: RCV000186563
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a French sister and brother with amelogenesis imperfecta and short stature (DASS; 601216), who also exhibited mild platyspondyly, Huckert et al. (2015) identified compound heterozygosity for a c.421C-T transition (c.421C-T, NM_001130144.2) in exon 2 of the LTBP3 gene, resulting in a gln141-to-ter (Q141X) substitution, and a splice site mutation (c.1531+1G-T; 602090.0005) in intron 8, predicted to cause in-frame skipping of exon 8. Their unaffected parents were unavailable for study. Neither mutation was found in the Exome Variant Server or 1000 Genomes Project databases. </p>
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|
</span>
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</div>
|
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<div>
|
|
<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 DENTAL ANOMALIES AND SHORT STATURE</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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<div>
|
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<span class="mim-text-font">
|
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LTBP3, IVS8DS, G-T, +1
|
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<br />
|
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|
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SNP: rs875989823,
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gnomAD: rs875989823,
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ClinVar: RCV000186564
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the splice site mutation (c.1531+1G-T, NM_001130144.2) in the LTBP3 gene that was found in compound heterozygous state in sibs with amelogenesis imperfecta and short stature (DASS; 601216) by Huckert et al. (2015), see 602090.0004. </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>.0006 DENTAL ANOMALIES AND SHORT STATURE</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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LTBP3, 1-BP DEL, 2216G
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<br />
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SNP: rs752375653,
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gnomAD: rs752375653,
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ClinVar: RCV000186565
|
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</span>
|
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 12-year-old Brazilian boy with amelogenesis imperfecta and short stature (DASS; 601216), who was originally described by Bertola et al. (2009) and who also exhibited delayed eruption of dentition and mild platyspondyly, Huckert et al. (2015) identified homozygosity for a 1-bp deletion (c.2216_2217delG, NM_001130144.2) in exon 15 of the LTBP3 gene, causing a frameshift predicted to result in a premature termination codon (Gly739AlafsTer7). The deletion, which segregated with disease in the family, was not found in the Exome Variant Server or 1000 Genomes Project databases. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 DENTAL ANOMALIES AND SHORT STATURE</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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LTBP3, 1-BP DEL, 2356G
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<br />
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SNP: rs875989824,
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ClinVar: RCV000186566
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 3 Pakistani sibs with amelogenesis imperfecta and short stature (DASS; 601216), who also exhibited oligodontia, generalized platyspondyly, and scoliosis, Huckert et al. (2015) identified homozygosity for a 1-bp deletion (c.2356_2357delG, NM_001130144.2) in exon 17 of the LTBP3 gene, causing a frameshift predicted to result in a premature termination codon (Val786TrpfsTer82). The mutation, which segregated with disease in the family, was not found in the Exome Variant Server or 1000 Genomes Project databases. </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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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 GELEOPHYSIC DYSPLASIA 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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LTBP3, SER696CYS
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<br />
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SNP: rs1554974135,
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ClinVar: RCV000523149
|
|
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|
|
</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a mother (SKDP-4.2) and 2 sons (SKDP-4.4 and SKDP-4.3) with mild geleophysic dysplasia-3 (GPHYSD3; 617809), McInerney-Leo et al. (2016) identified heterozygosity for a c.2087C-G transversion (c.2087C-G, NM_001130144) in exon 14 of the LTBP3 gene, resulting in a ser696-to-cys (S696C) substitution at a highly conserved residue in an EGF-like calcium-binding domain. The mutation was not found in the 2 of the mother's 5 unaffected sibs who underwent whole-exome sequencing. Patient fibroblasts were disorganized and irregular in size compared to control fibroblasts, but FBN1 (134797) staining intensity and pattern were similar to control. </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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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 GELEOPHYSIC DYSPLASIA 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
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LTBP3, TER1304CYS
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<br />
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SNP: rs1554971742,
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|
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ClinVar: RCV000519031
|
|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy (GD-1) with geleophysic dysplasia (GPHYSD3; 617809), who died of respiratory failure at age 4 years, McInerney-Leo et al. (2016) identified heterozygosity for a de novo c.3912A-T transversion (c.3912A-T, NM_001130144.2) in exon 28 of the LTBP3 gene, resulting in loss of the normal stop codon (Ter1304CysExt12). The mutation was not present in his unaffected parents, in 200 ethnically matched controls or 5,483 in-house exomes, or in the ExAC, dbSNP (build 129), or 1000 Genomes Project databases. </p>
|
|
</span>
|
|
</div>
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 GELEOPHYSIC DYSPLASIA 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
LTBP3, IVS12DS, G-A, +5
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs1188540819,
|
|
|
|
|
|
gnomAD: rs1188540819,
|
|
|
|
|
|
ClinVar: RCV000520920
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy (GD-2) with geleophysic dysplasia (GPHYSD3; 617809), who died of respiratory failure at age 18 months, McInerney-Leo et al. (2016) identified heterozygosity for a de novo splice site mutation (c.1846+5G-A, NM_001130144.2) in intron 12 of the LTBP3 gene. The mutation was not present in his unaffected parents, in 200 ethnically matched controls or 5,483 in-house exomes, or in the ExAC, dbSNP (build 129), or 1000 Genomes Project databases. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 DENTAL ANOMALIES AND SHORT STATURE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LTBP3, 1-BP DEL, 132G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1286042594,
|
|
|
|
|
|
gnomAD: rs1286042594,
|
|
|
|
|
|
ClinVar: RCV000627066, RCV001269742, RCV001291427
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a brother and 2 sisters with dental anomalies and short stature (DASS; 601216), who also exhibited mitral valve prolapse and arterial aneurysmal disease, Guo et al. (2018) identified compound heterozygosity for mutations in the LTBP3 gene: a 1-bp deletion (c.132delG, NM_001130144), causing a frameshift predicted to result in a premature termination codon (Pro45ArgfsTer25), and a c.2248G-T transversion, resulting in a glu750-to-ter (E750X; 602090.0012) substitution. Their unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in the gnomAD database. Both sisters exhibited mild mitral valve prolapse, and 1 sister also had aortic root dilation, whereas their brother had abdominal aortic aneurysm and visceral and peripheral arterial aneurysms. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 DENTAL ANOMALIES AND SHORT STATURE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LTBP3, GLU750TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1554973844,
|
|
|
|
|
|
|
|
ClinVar: RCV000627067, RCV001291428
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.2248G-T transversion (c.2248G-T, NM_001130144) in the LTBP3 gene, resulting in a glu750-to-ter (E750X) substitution, that was found in compound heterozygous state in 3 sibs with dental anomalies and short stature (DASS; 601216) by Guo et al. (2018), see 602090.0011. </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">
|
|
Bertola, D. R., Antequera, R., Rodovalho, M. J., Honjo, R. S., Albano, L. M. J., Furquim, I. M., Oliveira, L. A., Kim, C. A.
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|
<strong>Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity.</strong>
|
|
Am. J. Med. Genet. 149A: 532-534, 2009.
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[PubMed: 19213025]
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[Full Text: https://doi.org/10.1002/ajmg.a.32661]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Dabovic, B., Chen, Y., Colarossi, C., Obata, H., Zambuto, L., Perle, M. A., Rifkin, D. B.
|
|
<strong>Bone abnormalities in latent TGF-beta binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-beta bioavailability.</strong>
|
|
J. Cell Biol. 156: 227-232, 2002.
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[PubMed: 11790802]
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[Full Text: https://doi.org/10.1083/jcb.200111080]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Dugan, S. L., Temme, R. T., Olson, R. A., Mikhailov, A., Law, R., Mahmood, H., Noor, A., Vincent, J. B.
|
|
<strong>New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.</strong>
|
|
Am. J. Med. Genet. 167A: 1396-1399, 2015.
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[PubMed: 25899461]
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[Full Text: https://doi.org/10.1002/ajmg.a.37049]
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|
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Guo, D., Regalado, E. S., Pinard, A., Chen, J., Lee, K., Rigelsky, C., Zilberberg, L., Hostetler, E. M., Aldred, M., Wallace, S. E., Prakash, S. K., University of Washington Center for Mendelian Genomics, Leal, S. M., Bamshad, M. J., Nickerson, D. A., Natowicz, Rifkin, D. B., Milewicz, D. M.
|
|
<strong>LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections.</strong>
|
|
Am. J. Hum. Genet. 102: 706-712, 2018.
|
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|
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|
|
[PubMed: 29625025]
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[Full Text: https://doi.org/10.1016/j.ajhg.2018.03.002]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Huckert, M., Stoetzel, C., Morkmued, S., Laugel-Haushalter, V., Geoffroy, V., Muller, J., Clauss, F., Prasad, M. K., Obry, F., Raymond, J. L., Switala, M., Alembik, Y., and 24 others.
|
|
<strong>Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.</strong>
|
|
Hum. Molec. Genet. 24: 3038-3049, 2015.
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[PubMed: 25669657]
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[Full Text: https://doi.org/10.1093/hmg/ddv053]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Li, X., Yin, W., Perez-Jurado, L., Bonadio, J., Francke, U.
|
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<strong>Mapping of human and murine genes for latent TGF-beta binding protein-2 (LTBP2).</strong>
|
|
Mammalian Genome 6: 42-45, 1995.
|
|
|
|
|
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[PubMed: 7719025]
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|
|
[Full Text: https://doi.org/10.1007/BF00350892]
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|
</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
McInerney-Leo, A. M., Le Goff, C., Leo, P. J., Kenna, T. J., Keith, P., Harris, J. E., Steer, R., Bole-Feysot, C., Nitschke, P., Kielty, C., Brown, M. A., Zankl, A., Duncan, E. L., Cormier-Diare, V.
|
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<strong>Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.</strong>
|
|
J. Med. Genet. 53: 457-464, 2016.
|
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|
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[PubMed: 27068007]
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[Full Text: https://doi.org/10.1136/jmedgenet-2015-103647]
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|
|
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|
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
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Noor, A., Windpassinger, C., Vitcu, I., Orlic, M., Rafiq, M. A., Khalid, M., Malik, M. N., Ayub, M., Alman, B., Vincent, J. B.
|
|
<strong>Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.</strong>
|
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Am. J. Hum. Genet. 84: 519-523, 2009.
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[PubMed: 19344874]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.03.007]
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|
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</p>
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<li>
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<p class="mim-text-font">
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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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<li>
|
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<p class="mim-text-font">
|
|
Sawicki, M., Arnold, E., Ebrahimi, S., Duell, T., Jin, S., Wood, T., Chakrabarti, R., Peters, J., Wan, Y., Samara, G., Weier, H.-U. G., Udar, N., Passaro, E., Jr., Srivatsan, E. S.
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<strong>A transcript map encompassing the multiple endocrine neoplasia type-1 (MEN1) locus on chromosome 11q13.</strong>
|
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Genomics 42: 405-412, 1997.
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[PubMed: 9205112]
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[Full Text: https://doi.org/10.1006/geno.1997.4773]
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|
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Yin, W., Smiley, E., Germiller, J., Mechan, R. P., Florer, J. B., Wenstrup, R. J., Bonadio, J.
|
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<strong>Isolation of a novel latent transforming growth factor-beta binding protein gene (LTBP-3).</strong>
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J. Biol. Chem. 270: 10147-10160, 1995.
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[PubMed: 7730318]
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[Full Text: https://doi.org/10.1074/jbc.270.17.10147]
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</p>
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|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Zhou, Y., Cashman, T. J., Nevis, K. R., Obregon, P., Carney, S. A., Liu, Y., Gu, A., Mosimann, C., Sondalle, S., Peterson, R. E., Heideman, W., Burns, C. E., Burns, C. G.
|
|
<strong>Latent TGF-beta binding protein 3 identifies a second heart field in zebrafish.</strong>
|
|
Nature 474: 645-648, 2011.
|
|
|
|
|
|
[PubMed: 21623370]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature10094]
|
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|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
</div>
|
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|
|
</div>
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Marla J. F. O'Neill - updated : 05/11/2018<br>Marla J. F. O'Neill - updated : 12/13/2017<br>Marla J. F. O'Neill - updated : 7/27/2015<br>Ada Hamosh - updated : 8/26/2011<br>Cassandra L. Kniffin - updated : 10/20/2009<br>Patricia A. Hartz - updated : 3/11/2002
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Victor A. McKusick : 10/27/1997
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carol : 05/11/2018<br>carol : 01/04/2018<br>alopez : 12/13/2017<br>carol : 08/18/2015<br>alopez : 7/28/2015<br>mcolton : 7/27/2015<br>alopez : 8/26/2011<br>carol : 2/9/2011<br>alopez : 10/20/2009<br>ckniffin : 10/20/2009<br>carol : 3/11/2002<br>carol : 3/1/2001<br>mgross : 3/21/2000<br>mark : 12/5/1997<br>terry : 10/28/1997<br>mark : 10/27/1997<br>mark : 10/27/1997
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