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Entry
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- *603381 - FILAMIN B; FLNB
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603381</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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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</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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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603381">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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</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-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="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=ENSG00000136068;t=ENST00000295956" 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=2317" 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=603381" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000136068;t=ENST00000295956" 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_001164317,NM_001164318,NM_001164319,NM_001457" 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_001457" 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=603381" 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=04543&isoform_id=04543_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/FLNB" 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/349451,3282771,3298597,6808285,8100574,9664263,18376718,18376720,18376721,18376722,18376723,34365016,51491176,53791217,62089364,105990514,119585756,119585757,119585758,119585759,119585760,119585761,190192190,190192192,190192194,256222411,256222413,256222415,296434507" 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/O75369" 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=2317" 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=ENSG00000136068;t=ENST00000295956" 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=FLNB" 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=FLNB" 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+2317" 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/FLNB" 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:2317" 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/2317" 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=chr3&hgg_gene=ENST00000295956.9&hgg_start=58008422&hgg_end=58172251&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3755" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/flnb" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603381[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=603381[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/FLNB/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/ENSG00000136068" 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=FLNB" 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=FLNB" 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=FLNB" 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=FLNB&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/PA28173" 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:3755" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0014141.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2446089" 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/FLNB#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:2446089" 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/2317/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://www.orthodb.org/?ncbi=2317" 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://wormbase.org/db/gene/gene?name=WBGene00022048;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-031112-6" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2317" 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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<div><a href="https://reactome.org/content/query?q=FLNB&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> 254054000, 63387002, 702351004, 725141006, 725142004<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>
|
|
603381
|
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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>
|
|
<span class="mim-font">
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FILAMIN B; FLNB
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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>
|
|
<span class="mim-font">
|
|
FILAMIN, BETA<br />
|
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ACTIN-BINDING PROTEIN 276/278; ABP276/278
|
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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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<a id="includedTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
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</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
TRUNCATED ACTIN-BINDING PROTEIN, INCLUDED; TABP, INCLUDED
|
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</span>
|
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</div>
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<div>
|
|
<span class="h4 mim-font">
|
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|
ACTIN-BINDING PROTEIN, TRUNCATED, INCLUDED<br />
|
|
FILAMIN HOMOLOG 1, INCLUDED; FH1, INCLUDED
|
|
</span>
|
|
</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=FLNB" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FLNB</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/3/418?start=-3&limit=10&highlight=418">3p14.3</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:58008422-58172251&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'})">3:58,008,422-58,172,251</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=108720,108721,112310,150250,272460" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="5">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/418?start=-3&limit=10&highlight=418">
|
|
3p14.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Atelosteogenesis, type I
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/108720"> 108720 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
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</tr>
|
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>Filamins, such as FLNB, are actin-binding proteins that also interact with multiple receptors and intracellular proteins that regulate cytoskeleton-dependent cell proliferation, differentiation, and migration (<a href="#9" class="mim-tip-reference" title="Hu, J., Lu, J., Lian, G., Ferland, R. J., Dettenhofer, M., Sheen, V. L. <strong>Formin 1 and filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plate.</strong> Hum. Molec. Genet. 23: 4663-4673, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24760772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24760772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24760772[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/ddu186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24760772">Hu et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24760772" 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 platelet GpIb complex (see <a href="/entry/138720">138720</a>) mediates the adherence of platelets at the site of vascular injury through the binding of GpIb-alpha (<a href="/entry/231200">231200</a>) to subendothelial von Willebrand factor (VWF; <a href="/entry/613160">613160</a>). In platelets, the GpIb complex is tightly bound to the actin cytoskeleton via an interaction of GpIb-alpha with ABP280 (filamin A; <a href="/entry/300017">300017</a>). Using a yeast 2-hybrid screen with the cytoplasmic tail of GpIb-alpha as bait, <a href="#16" class="mim-tip-reference" title="Takafuta, T., Wu, G., Murphy, G. F., Shapiro, S. S. <strong>Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ib-alpha.</strong> J. Biol. Chem. 273: 17531-17538, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9651345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9651345</a>] [<a href="https://doi.org/10.1074/jbc.273.28.17531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9651345">Takafuta et al. (1998)</a> isolated partial cDNAs encoding a novel filamin homolog that they designated beta-filamin. They used the partial cDNAs to screen a placenta library and recovered additional cDNAs corresponding to the entire beta-filamin coding region. Like ABP280, the predicted 2,602-amino acid protein contains an N-terminal actin-binding domain, a backbone of 24 tandem repeats, and 2 hinge regions. Excluding the unique first hinge region of beta-filamin, the sequences of beta-filamin and ABP280 are 70% identical. Antibodies against beta-filamin detected a 280-kD protein on Western blots of human umbilical vein endothelial cell (HUVEC) extracts and stained normal human endothelial cells in culture and in situ. <a href="#16" class="mim-tip-reference" title="Takafuta, T., Wu, G., Murphy, G. F., Shapiro, S. S. <strong>Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ib-alpha.</strong> J. Biol. Chem. 273: 17531-17538, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9651345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9651345</a>] [<a href="https://doi.org/10.1074/jbc.273.28.17531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9651345">Takafuta et al. (1998)</a> determined that the GpIb-alpha-binding domain in beta-filamin is in repeats 17-20, a region that corresponds to the GpIb-alpha-binding domain in ABP280. Northern blot analysis revealed that beta-filamin is expressed as 2 approximately 9.5-kb mRNAs in many adult tissues. The 2 different transcripts appear to result from use of alternative polyadenylation signals. <a href="#16" class="mim-tip-reference" title="Takafuta, T., Wu, G., Murphy, G. F., Shapiro, S. S. <strong>Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ib-alpha.</strong> J. Biol. Chem. 273: 17531-17538, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9651345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9651345</a>] [<a href="https://doi.org/10.1074/jbc.273.28.17531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9651345">Takafuta et al. (1998)</a> concluded that beta-filamin is a new member of the filamin family that may have significance for GpIb-alpha function in endothelial cells and platelets. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9651345" 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>Independently, <a href="#18" class="mim-tip-reference" title="Xu, W., Xie, Z., Chung, D. W., Davie, E. W. <strong>A novel human actin-binding protein homologue that binds to platelet glycoprotein Ib-alpha.</strong> Blood 92: 1268-1276, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9694715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9694715</a>]" pmid="9694715">Xu et al. (1998)</a> isolated cDNAs encoding beta-filamin, which they referred to as ABP278. These authors also identified alternatively spliced mRNAs encoding ABP276, a beta-filamin isoform missing the first hinge region. RT-PCR analysis indicated that the 2 isoforms were expressed at different relative levels in various human tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9694715" 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>The addition of thyroid-stimulating hormone (TSH; see <a href="/entry/188540">188540</a>) to cultured thyroid follicular cells induces rapid and profound disruption of actin microfilaments. Using serum from a Graves disease (<a href="/entry/275000">275000</a>) patient, <a href="#12" class="mim-tip-reference" title="Leedman, P. J., Faulkner-Jones, B., Cram, D. S., Harrison, P. J., West, J., O'Brien, E., Simpson, R., Coppel, R. L., Harrison, L. C. <strong>Cloning from the thyroid of a protein related to actin binding protein that is recognized by Graves disease immunoglobulins.</strong> Proc. Nat. Acad. Sci. 90: 5994-5998, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8327473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8327473</a>] [<a href="https://doi.org/10.1073/pnas.90.13.5994" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8327473">Leedman et al. (1993)</a> identified a thyroid cDNA encoding TABP (truncated actin-binding protein), a predicted 195-amino acid protein with homology to the C terminus of ABP280. Both <a href="#18" class="mim-tip-reference" title="Xu, W., Xie, Z., Chung, D. W., Davie, E. W. <strong>A novel human actin-binding protein homologue that binds to platelet glycoprotein Ib-alpha.</strong> Blood 92: 1268-1276, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9694715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9694715</a>]" pmid="9694715">Xu et al. (1998)</a> and <a href="#16" class="mim-tip-reference" title="Takafuta, T., Wu, G., Murphy, G. F., Shapiro, S. S. <strong>Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ib-alpha.</strong> J. Biol. Chem. 273: 17531-17538, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9651345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9651345</a>] [<a href="https://doi.org/10.1074/jbc.273.28.17531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9651345">Takafuta et al. (1998)</a> considered TABP to be a truncated form of beta-filamin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8327473+9651345+9694715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By analysis of somatic cell hybrids, <a href="#19" class="mim-tip-reference" title="Zhang, W., Han, S. W., McKeel, D. W., Goate, A., Wu, J. Y. <strong>Interaction of presenilins with the filamin family of actin-binding proteins.</strong> J. Neurosci. 18: 914-922, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9437013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9437013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9437013[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/10.1523/JNEUROSCI.18-03-00914.1998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9437013">Zhang et al. (1998)</a> mapped the FH1 gene to chromosome 3. <a href="#16" class="mim-tip-reference" title="Takafuta, T., Wu, G., Murphy, G. F., Shapiro, S. S. <strong>Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ib-alpha.</strong> J. Biol. Chem. 273: 17531-17538, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9651345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9651345</a>] [<a href="https://doi.org/10.1074/jbc.273.28.17531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9651345">Takafuta et al. (1998)</a> refined the map position to 3p21.1-p14.3 based on inclusion of a previously mapped STS within the beta-filamin sequence. By FISH, <a href="#4" class="mim-tip-reference" title="Brocker, F., Bardenheuer, W., Vieten, L., Julicher, K., Werner, N., Marquitan, G., Michael, D., Opalka, B., Schutte, J. <strong>Assignment of human filamin gene FLNB to human chromosome band 3p14.3 and identification of YACs containing the complete FLNB transcribed region.</strong> Cytogenet. Cell Genet. 85: 267-268, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10449914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10449914</a>] [<a href="https://doi.org/10.1159/000015309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10449914">Brocker et al. (1999)</a> assigned the FLNB gene to 3p14.3. <a href="#6" class="mim-tip-reference" title="Chakarova, C., Wehnert, M. S., Uhl, K., Sakthivel, S., Vosberg, H.-P., van der Ven, P. F. M., Furst, D. O. <strong>Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family.</strong> Hum. Genet. 107: 597-611, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11153914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11153914</a>] [<a href="https://doi.org/10.1007/s004390000414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11153914">Chakarova et al. (2000)</a> mapped FLNB to 3p14 by radiation hybrid analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9437013+10449914+9651345+11153914" 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>Using antigen-capture ELISA, <a href="#16" class="mim-tip-reference" title="Takafuta, T., Wu, G., Murphy, G. F., Shapiro, S. S. <strong>Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ib-alpha.</strong> J. Biol. Chem. 273: 17531-17538, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9651345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9651345</a>] [<a href="https://doi.org/10.1074/jbc.273.28.17531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9651345">Takafuta et al. (1998)</a> found that beta-filamin associates with GpIb-alpha in both platelets and HUVEC extracts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9651345" 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>Mutations in the presenilin genes PS1 (<a href="/entry/104311">104311</a>) and PS2 (<a href="/entry/600759">600759</a>) account for approximately 50% of early-onset familial Alzheimer disease (AD; <a href="/entry/104300">104300</a>). <a href="#19" class="mim-tip-reference" title="Zhang, W., Han, S. W., McKeel, D. W., Goate, A., Wu, J. Y. <strong>Interaction of presenilins with the filamin family of actin-binding proteins.</strong> J. Neurosci. 18: 914-922, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9437013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9437013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9437013[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/10.1523/JNEUROSCI.18-03-00914.1998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9437013">Zhang et al. (1998)</a> identified beta-filamin as filamin homolog 1 (FH1), a filamin-related protein that interacts with the loop regions of PS1 and PS2. A monoclonal antibody recognizing both ABP280 and FH1 bound to blood vessels and astrocytes in the normal brain. In the brains of AD patients, <a href="#19" class="mim-tip-reference" title="Zhang, W., Han, S. W., McKeel, D. W., Goate, A., Wu, J. Y. <strong>Interaction of presenilins with the filamin family of actin-binding proteins.</strong> J. Neurosci. 18: 914-922, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9437013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9437013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9437013[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/10.1523/JNEUROSCI.18-03-00914.1998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9437013">Zhang et al. (1998)</a> observed staining also in neurofibrillary tangles, neuropil threads, and dystrophic neurites within some senile plaques. The authors stated that detection of these presenilin-interacting proteins in these brain structures suggests that ABP280 and FH1 may be involved in the development of AD and that interactions between presenilins and ABP280/FH1 may be functionally significant. <a href="#16" class="mim-tip-reference" title="Takafuta, T., Wu, G., Murphy, G. F., Shapiro, S. S. <strong>Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ib-alpha.</strong> J. Biol. Chem. 273: 17531-17538, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9651345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9651345</a>] [<a href="https://doi.org/10.1074/jbc.273.28.17531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9651345">Takafuta et al. (1998)</a> noted that the FH1 sequence is identical to the C-terminal 291 amino acids of beta-filamin except for 2 residues, making it very likely that FH1 represents the C-terminal region of beta-filamin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9437013+9651345" 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="#11" class="mim-tip-reference" title="Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others. <strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong> Nature Genet. 36: 405-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991055</a>] [<a href="https://doi.org/10.1038/ng1319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14991055">Krakow et al. (2004)</a> found that FLNB is expressed in human growth plate chondrocytes and in developing vertebral bodies in the mouse. The authors concluded that FLNB plays a role in vertebral segmentation, joint formation, and endochondral ossification. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14991055" 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>Mutation in the X-linked gene filamin A (FLNA) can cause the neurologic disorder periventricular heterotopia (<a href="/entry/300049">300049</a>). Although periventricular heterotopia is characterized by a failure in neuronal migration into the cerebral cortex with consequent formation of nodules in the ventricular and subventricular zones, many neurons appear to migrate normally, even in males, suggesting compensatory mechanisms. <a href="#15" class="mim-tip-reference" title="Sheen, V. L., Feng, Y., Graham, D., Takafuta, T., Shapiro, S. S., Walsh, C. A. <strong>Filamin A and filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.</strong> Hum. Molec. Genet. 11: 2845-2854, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393796</a>] [<a href="https://doi.org/10.1093/hmg/11.23.2845" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12393796">Sheen et al. (2002)</a> showed that, in mice, Flna mRNA was widely expressed in all brain cortical layers, whereas a homolog, Flnb, was most highly expressed in the ventricular and subventricular zones during development. In adulthood, widespread but reduced expression of Flna and Flnb persisted throughout the cerebral cortex. Flna and Flnb proteins were highly expressed in both the leading processes and somata of migratory neurons during corticogenesis. Postnatally, Flna immunoreactivity was largely localized to the cell body, whereas Flnb was localized to the soma and neuropil during neuronal differentiation. The putative Flnb homodimerization domain strongly interacted with itself or the corresponding homologous region of Flna, as shown by yeast 2-hybrid interaction. The 2 proteins colocalized within neuronal precursors by immunocytochemistry, and the existence of Flna-Flnb heterodimers could be detected by coimmunoprecipitation. <a href="#15" class="mim-tip-reference" title="Sheen, V. L., Feng, Y., Graham, D., Takafuta, T., Shapiro, S. S., Walsh, C. A. <strong>Filamin A and filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.</strong> Hum. Molec. Genet. 11: 2845-2854, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393796</a>] [<a href="https://doi.org/10.1093/hmg/11.23.2845" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12393796">Sheen et al. (2002)</a> suggested that FLNA and FLNB may form both homodimers and heterodimers, and that their interaction could potentially compensate for the loss of FLNA function during cortical development within patients with periventricular heterotopia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12393796" 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 yeast 2-hybrid and immunoprecipitation analyses, <a href="#9" class="mim-tip-reference" title="Hu, J., Lu, J., Lian, G., Ferland, R. J., Dettenhofer, M., Sheen, V. L. <strong>Formin 1 and filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plate.</strong> Hum. Molec. Genet. 23: 4663-4673, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24760772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24760772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24760772[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/ddu186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24760772">Hu et al. (2014)</a> found that mouse Flnb and Flna interacted directly with the actin nucleating-protein Fmn1 (<a href="/entry/136535">136535</a>). The filamins and Fmn1 colocalized in cytoplasm and, to a lesser extent, nucleus, and they were coexpressed in chondrocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24760772" 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="Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others. <strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong> Nature Genet. 36: 405-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991055</a>] [<a href="https://doi.org/10.1038/ng1319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14991055">Krakow et al. (2004)</a> identified mutations in the FLNB gene in 4 human skeletal disorders: spondylocarpotarsal syndrome (SCT; <a href="/entry/272460">272460</a>), Larsen syndrome (LRS; <a href="/entry/150250">150250</a>), type I atelosteogenesis (AO1; <a href="/entry/108720">108720</a>), and type III atelosteogenesis (AO3; <a href="/entry/108721">108721</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14991055" 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="#3" class="mim-tip-reference" title="Biesecker, L. G. <strong>Phenotype matters.</strong> Nature Genet. 36: 323-324, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054484</a>] [<a href="https://doi.org/10.1038/ng0404-323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054484">Biesecker (2004)</a> commented that from the standpoint of the clinical geneticist, 4 distinct disorders result from mutation in the FLNB gene. In contrast, a basic scientist might view them as a single disorder with inconsequential phenotypic differences. The information concerning the multiple disorders caused by mutations in the FLNB gene followed closely on the heels of reports of mutations in the FLNA gene (<a href="/entry/300017">300017</a>) as the cause of 5 distinct disorders. This was of interest because there are overlapping phenotypic features in the disorders associated with FLNA and FLNB. <a href="#3" class="mim-tip-reference" title="Biesecker, L. G. <strong>Phenotype matters.</strong> Nature Genet. 36: 323-324, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054484</a>] [<a href="https://doi.org/10.1038/ng0404-323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054484">Biesecker (2004)</a> pointed out that the 'FLNB story' used information from the International Skeletal Dysplasia Registry (ISDR), which is maintained by a skilled group of clinical scientists and includes information on more than 12,000 cases of individuals with disorders that fall into 50 diagnostic groups. One reason for the success of the registry is that it combines clinical service with research archives. The motivation for a clinician to submit cases to the registry is that he or she can receive an expert opinion on the diagnosis (which is useful for medical care and estimating recurrence risks) and, as in the FLNB story, contribute to research. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054484" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 22-week male fetus previously studied by <a href="#11" class="mim-tip-reference" title="Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others. <strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong> Nature Genet. 36: 405-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991055</a>] [<a href="https://doi.org/10.1038/ng1319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14991055">Krakow et al. (2004)</a> and a 17-week male fetus previously described by <a href="#17" class="mim-tip-reference" title="Wessels, M. W., Den Hollander, N. S., De Krijger, R. R., Bonife, L., Superti-Furga, A., Nikkels, P. G., Willems, P. J. <strong>Prenatal diagnosis of boomerang dysplasia.</strong> Am. J. Med. Genet. 122A: 148-154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12955767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12955767</a>] [<a href="https://doi.org/10.1002/ajmg.a.20239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12955767">Wessels et al. (2003)</a>, both diagnosed with boomerang dysplasia (BOOMD; <a href="/entry/112310">112310</a>), <a href="#2" class="mim-tip-reference" title="Bicknell, L. S., Morgan, T., Bonafe, L., Wessels, M. W., Bialer, M. G., Willems, P. J., Cohn, D. H., Krakow, D., Robertson, S. P. <strong>Mutations in FLNB cause boomerang dysplasia.</strong> J. Med. Genet. 42: e43, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15994868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15994868</a>] [<a href="https://doi.org/10.1136/jmg.2004.029967" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15994868">Bicknell et al. (2005)</a> identified heterozygosity for mutations in the FLNB gene, leu171 to arg (L171R; <a href="#0009">603381.0009</a>) and ser235 to pro (S235P; <a href="#0010">603381.0010</a>), respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15994868+12955767+14991055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Farrington-Rock, C., Firestein, M. H., Bicknell, L. S., Superti-Furga, A., Bacino, C. A., Cormier-Daire, V., Le Merrer, M., Baumann, C., Roume, J., Rump, P., Verheij, J. B. G. M., Sweeney, E., Rimoin, D. L., Lachman, R. S., Robertson, S. P., Cohn, D. H., Krakow, D. <strong>Mutations in two regions of FLNB result in atelosteogenesis I and III.</strong> Hum. Mutat. 27: 705-710, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752402</a>] [<a href="https://doi.org/10.1002/humu.20348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752402">Farrington-Rock et al. (2006)</a> found 14 novel missense mutations in FLNB in 15 unrelated patients with atelosteogenesis I and/or atelosteogenesis III. Most of the mutations resided in exons 2 and 3, which encode the CH2 domain of the actin-binding region of filamin B. The remaining mutations were found in exon 28 and exon 29, which encode repeats 14 and 15 of filamin B. Clinical and radiographic data were used to confirm the diagnosis of atelosteogenesis in all the patients. The diagnosis of type I was given to patients showing classic findings of absent, shortened, or distally tapered humeri and femora; absent, shortened, or bowed radii; shortened and bowed ulnae and tibiae; and absent fibulae. Other findings included vertebral hypoplasia with coronal clefts, 11 ribs, shortened wide distal phalanges, and unossified or partially ossified metacarpals and middle and proximal phalanges. In addition, most type I patients showed evidence of a hypoplastic pelvis, dislocations of the hips, elbows, and knees, and clubbed feet. With the exception of 1 patient where the pregnancy was terminated after 24 weeks' gestation, the patients given the diagnosis of type I either died in the neonatal period or were stillborn. The diagnosis of type III was given to patients when all bones were present in the extremities, when there was distal tapering of the humeri or femora, and where the small tubular bones of the hands and feet were shortened and broad. In 2 patients with type III, the fibulae were absent. Dislocation of the elbows, hips, and knees and clubbed feet were also present in the type III patients, as was vertebral hypoplasia with coronal clefting. Cartilage of these patients showed acellular areas within the growth plate and the presence of large multinuclear cells ('giant cells') within the resting zone as had been described previously. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bicknell, L. S., Farrington-Rock, C., Shafeghati, Y., Rump, P., Alanay, Y., Alembik, Y., Al-Madani, N., Firth, H., Karimi-Nejad, M. H., Kim, C. A., Leask, K., Maisenbacher, M., and 14 others. <strong>A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.</strong> J. Med. Genet. 44: 89-98, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16801345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16801345</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16801345[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.043687" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16801345">Bicknell et al. (2007)</a> identified heterozygous mutations in the FLNB gene (see, e.g., <a href="#0011">603381.0011</a>; <a href="#0012">603381.0012</a>) in 20 unrelated patients with Larsen syndrome. The distribution of mutations within the gene was nonrandom, with clusters of mutations in the actin-binding domains and filamin repeats 13 through 17 being the most common. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16801345" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a female infant with atelosteogenesis who died 3 hours after birth due to respiratory failure, <a href="#10" class="mim-tip-reference" title="Jeon, G. W., Lee, M.-N., Jung, J. M., Hong, S. Y., Kim, Y. N., Sin, J. B., Ki, C.-S. <strong>Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.</strong> Ann. Lab. Med. 34: 134-138, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24624349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24624349</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24624349[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/10.3343/alm.2014.34.2.134" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24624349">Jeon et al. (2014)</a> performed postmortem exome sequencing and identified heterozygosity for a de novo A173T mutation (<a href="#0015">603381.0015</a>) in the FLNB gene that was not found in 50 healthy controls. The authors noted that most lethal FLNB-related disorders are caused by de novo mutations, and thus there is a low risk of recurrence in subsequent pregnancies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24624349" 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 7 families with SCT syndrome, <a href="#14" class="mim-tip-reference" title="Salian, S., Shukla, A., Shah, H., Bhat, S. N., Bhat, V. R., Nampoothiri, S., Shenoy, R., Phadke, S. R., Hariharan, S. V., Girisha, K. M. <strong>Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.</strong> Clin. Genet. 94: 159-164, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29566257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29566257</a>] [<a href="https://doi.org/10.1111/cge.13252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29566257">Salian et al. (2018)</a> identified 2 nonsense and 5 frameshift variants in the FLNB gene (see, e.g., <a href="#0016">603381.0016</a>), all in homozygous state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29566257" 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="#20" class="mim-tip-reference" title="Zhou, X., Tian, F., Sandzen, J., Cao, R., Flaberg, E., Szekely, L., Cao, Y., Ohlsson, C., Bergo, M. O., Boren, J., Akyurek, L. M. <strong>Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development.</strong> Proc. Nat. Acad. Sci. 104: 3919-3924, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17360453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17360453</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17360453[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/10.1073/pnas.0608360104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17360453">Zhou et al. (2007)</a> detected strong expression of the mouse Flnb gene in vascular endothelial cells and chondrocytes. In Flnb -/- mice, the authors observed a phenotype that resembled those of human skeletal disorders with mutations in the FLNB gene. Less than than 3% of Flnb -/- embryos reached term, indicating that the Flnb gene is important in embryonic development, whereas Flnb +/- mice were indistinguishable from their wildtype sibs. Flnb -/- embryos had impaired development of microvasculature and skeletal systems. The few that were born were very small and had scoliotic and kyphotic spines, lack of intervertebral discs, fusion of vertebral bodies, and reduced hyaline matrix in bones of the extremities, thorax, and vertebrae. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17360453" 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="#8" class="mim-tip-reference" title="Farrington-Rock, C., Kirilova, V., Dillard-Telm, L., Borowsky, A. D., Chalk, S., Rock, M. J., Cohn, D. H., Krakow, D. <strong>Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.</strong> Hum. Molec. Genet. 17: 631-641, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17635842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17635842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17635842[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/ddm188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17635842">Farrington-Rock et al. (2008)</a> generated Flnb -/- mice and observed a phenotype of short stature and skeletal abnormalities similar to those of individuals with spondylocarpotarsal synostosis syndrome (SCT; <a href="/entry/272460">272460</a>). Newborn Flnb -/- mice had fusions between the neural arches of the vertebrae in the cervical and thoracic spine. At postnatal day 60, the vertebral fusions were more widespread and involved the vertebral bodies as well as the neural arches. In addition, fusions were seen in sternum and carpal bones. Analysis of the Flnb -/- mice phenotype showed that an absence of filamin B causes progressive vertebral fusions, in contrast to the previous hypothesis that SCT results from failure of normal spinal segmentation. <a href="#8" class="mim-tip-reference" title="Farrington-Rock, C., Kirilova, V., Dillard-Telm, L., Borowsky, A. D., Chalk, S., Rock, M. J., Cohn, D. H., Krakow, D. <strong>Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.</strong> Hum. Molec. Genet. 17: 631-641, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17635842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17635842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17635842[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/ddm188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17635842">Farrington-Rock et al. (2008)</a> suggested that spinal segmentation can occur normally in the absence of filamin B, but that the protein is required for maintenance of intervertebral, carpal, and sternal joints, and the joint fusion process commences antenatally. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17635842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Hu, J., Lu, J., Lian, G., Ferland, R. J., Dettenhofer, M., Sheen, V. L. <strong>Formin 1 and filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plate.</strong> Hum. Molec. Genet. 23: 4663-4673, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24760772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24760772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24760772[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/ddu186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24760772">Hu et al. (2014)</a> found that knockout (KO) of both Flnb and Fmn1 in mice resulted in a more severe reduction in body size, weight, and growth plate length than that observed in mice with KO of either gene alone. In Flnb/Fmn1 double-KO mice, shortening of long bones was associated with decreased chondrocyte proliferation and an overall delay in ossification. Comparison of Fmn1 KO mice with Flnb/Fmn1 double-KO mice revealed nonoverlapping functions for Fmn1 and Flnb in the prehypertrophic zone, with loss of Fmn1 resulting in a decrease in the width of the prehypertrophic zone, and loss of Flnb causing premature differentiation of the prehypertrophic zone. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24760772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a consanguineous family with spondylocarpotarsal syndrome (SCT; <a href="/entry/272460">272460</a>), <a href="#11" class="mim-tip-reference" title="Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others. <strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong> Nature Genet. 36: 405-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991055</a>] [<a href="https://doi.org/10.1038/ng1319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14991055">Krakow et al. (2004)</a> found that affected individuals were homozygous for a 6408delC mutation in exon 39 of the FLNB gene that predicted a translational frameshift and a stop codon 4 codons downstream. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14991055" 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> rs80356519 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356519;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/rs80356519?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=rs80356519" 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=rs80356519" 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 nonconsanguineous family with spondylocarpotarsal syndrome (SCT; <a href="/entry/272460">272460</a>), <a href="#11" class="mim-tip-reference" title="Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others. <strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong> Nature Genet. 36: 405-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991055</a>] [<a href="https://doi.org/10.1038/ng1319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14991055">Krakow et al. (2004)</a> found that the affected individual was a compound heterozygote for 2 mutations in the FLNB gene that predicted premature stop codons: arg818 to ter (R818X) and arg1607 to ter (R1607X; <a href="#0003">603381.0003</a>). The former mutation was a 2452C-T transition in exon 16; the latter, a 4819C-T transition in exon 28. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14991055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME</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> rs80356520 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356520;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/rs80356520?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=rs80356520" 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=rs80356520" 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=RCV000006769" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006769" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006769</a>
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<p>For discussion of the 4819C-T transition in exon 28 of the FLNB gene, resulting in an arg1607-to-ter (R1607X) substitution, that was found in compound heterozygous state in a patient with spondylocarpotarsal synostosis syndrome (SCT; <a href="/entry/272460">272460</a>) by <a href="#11" class="mim-tip-reference" title="Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others. <strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong> Nature Genet. 36: 405-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991055</a>] [<a href="https://doi.org/10.1038/ng1319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14991055">Krakow et al. (2004)</a>, see <a href="#0002">603381.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14991055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 LARSEN SYNDROME</strong>
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FLNB, PHE161CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80356506 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356506;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=rs80356506" 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=rs80356506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030660 OR RCV002276538" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030660, RCV002276538" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030660...</a>
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</span>
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<span class="mim-text-font">
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<p>In a family with Larsen syndrome (LRS; <a href="/entry/150250">150250</a>), <a href="#11" class="mim-tip-reference" title="Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others. <strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong> Nature Genet. 36: 405-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991055</a>] [<a href="https://doi.org/10.1038/ng1319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14991055">Krakow et al. (2004)</a> found heterozygosity for a de novo missense mutation in the FLNB gene, 482T-G in exon 2, that predicted the substitution phe161-to-cys (F161C) in the second calponin homology domain (CHD2) of filamin B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14991055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 LARSEN SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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FLNB, GLY1586ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80356513 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356513;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=rs80356513" 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=rs80356513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030661" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030661" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030661</a>
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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 an individual with sporadically occurring Larsen syndrome (LRS; <a href="/entry/150250">150250</a>), <a href="#11" class="mim-tip-reference" title="Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others. <strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong> Nature Genet. 36: 405-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991055</a>] [<a href="https://doi.org/10.1038/ng1319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14991055">Krakow et al. (2004)</a> found heterozygosity for a de novo mutation in the FLNB gene, 4756G-A in exon 29, that predicted the substitution gly1586-to-arg (G1586R) in repeat 14 of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14991055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 ATELOSTEOGENESIS, TYPE I</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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FLNB, ALA173VAL
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908894 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908894;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=rs121908894" 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=rs121908894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006770 OR RCV003318540" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006770, RCV003318540" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006770...</a>
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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 an individual with atelosteogenesis type I (AO1; <a href="/entry/108720">108720</a>), <a href="#11" class="mim-tip-reference" title="Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others. <strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong> Nature Genet. 36: 405-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991055</a>] [<a href="https://doi.org/10.1038/ng1319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14991055">Krakow et al. (2004)</a> found heterozygosity for a point mutation, 518C-T, in exon 2 of the FNLB gene predicting an ala173-to-val (A173V) substitution in the second calponin homology domain (CHD2) of filamin B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14991055" 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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</span>
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<div>
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<div>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 ATELOSTEOGENESIS, TYPE I</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ATELOSTEOGENESIS, TYPE III, INCLUDED
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</span>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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FLNB, MET202VAL
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908895 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908895;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=rs121908895" 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=rs121908895" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006771 OR RCV000006772" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006771, RCV000006772" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006771...</a>
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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 1 individual with AO1 (<a href="/entry/108720">108720</a>) and in 1 with atelosteogenesis type III (AO3; <a href="/entry/108721">108721</a>), <a href="#11" class="mim-tip-reference" title="Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others. <strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong> Nature Genet. 36: 405-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991055</a>] [<a href="https://doi.org/10.1038/ng1319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14991055">Krakow et al. (2004)</a> found heterozygosity for the same point mutation in exon 3 of the FLNB gene, 604A-G, predicting a met202-to-val (M202V) substitution in the second calponin homology domain (CHD2) of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14991055" 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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</span>
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</div>
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<div>
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</div>
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<div>
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<div>
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<a id="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 ATELOSTEOGENESIS, TYPE III</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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FLNB, GLY751ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28937587 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28937587;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=rs28937587" 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=rs28937587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006773 OR RCV000508566" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006773, RCV000508566" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006773...</a>
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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 an individual with atelosteogenesis type III (AO3; <a href="/entry/108721">108721</a>), <a href="#11" class="mim-tip-reference" title="Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others. <strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong> Nature Genet. 36: 405-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991055</a>] [<a href="https://doi.org/10.1038/ng1319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14991055">Krakow et al. (2004)</a> found heterozygosity for a point mutation in exon 15 of the FLNB gene, 2251G-C, predicting a gly751-to-arg (G751R) substitution in repeat 6 of filamin B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14991055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 BOOMERANG DYSPLASIA</strong>
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FLNBA, LEU171ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80356494 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356494;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=rs80356494" 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=rs80356494" 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=RCV000006774" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006774" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006774</a>
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<p>In a 22-week male fetus with boomerang dysplasia (BOOMD; <a href="/entry/112310">112310</a>), previously studied by <a href="#11" class="mim-tip-reference" title="Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others. <strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong> Nature Genet. 36: 405-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991055</a>] [<a href="https://doi.org/10.1038/ng1319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14991055">Krakow et al. (2004)</a>, <a href="#2" class="mim-tip-reference" title="Bicknell, L. S., Morgan, T., Bonafe, L., Wessels, M. W., Bialer, M. G., Willems, P. J., Cohn, D. H., Krakow, D., Robertson, S. P. <strong>Mutations in FLNB cause boomerang dysplasia.</strong> J. Med. Genet. 42: e43, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15994868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15994868</a>] [<a href="https://doi.org/10.1136/jmg.2004.029967" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15994868">Bicknell et al. (2005)</a> identified heterozygosity for a 512T-G transversion in the FLNB gene, predicted to cause a leu171-to-arg (L171R) substitution in the second calponin homology domain of filamin B. The authors noted that this residue is highly evolutionarily conserved among vertebrate filamins. The mutation was not found in the unaffected parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15994868+14991055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<strong>.0010 BOOMERANG DYSPLASIA</strong>
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FLNB, SER235PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908896 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908896;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=rs121908896" 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=rs121908896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006775" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006775" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006775</a>
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<span class="mim-text-font">
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<p>In a 17-week male fetus with boomerang dysplasia (BOOMD; <a href="/entry/112310">112310</a>), previously described by <a href="#17" class="mim-tip-reference" title="Wessels, M. W., Den Hollander, N. S., De Krijger, R. R., Bonife, L., Superti-Furga, A., Nikkels, P. G., Willems, P. J. <strong>Prenatal diagnosis of boomerang dysplasia.</strong> Am. J. Med. Genet. 122A: 148-154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12955767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12955767</a>] [<a href="https://doi.org/10.1002/ajmg.a.20239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12955767">Wessels et al. (2003)</a>, <a href="#2" class="mim-tip-reference" title="Bicknell, L. S., Morgan, T., Bonafe, L., Wessels, M. W., Bialer, M. G., Willems, P. J., Cohn, D. H., Krakow, D., Robertson, S. P. <strong>Mutations in FLNB cause boomerang dysplasia.</strong> J. Med. Genet. 42: e43, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15994868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15994868</a>] [<a href="https://doi.org/10.1136/jmg.2004.029967" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15994868">Bicknell et al. (2005)</a> identified heterozygosity for a 703T-C transition in exon 4 of the FLNB gene, predicted to cause a ser235-to-pro (S235P) substitution in the second calponin homology domain of filamin B. The authors noted that this residue is highly evolutionarily conserved among vertebrate filamins. The mutation was not found in 100 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12955767+15994868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0011" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0011 LARSEN SYNDROME</strong>
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FLNB, GLU227LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80356508 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356508;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=rs80356508" 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=rs80356508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030662 OR RCV001582470 OR RCV004734500" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030662, RCV001582470, RCV004734500" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030662...</a>
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<span class="mim-text-font">
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<p>In 13 affected individuals from a large family with Larsen syndrome (LRS; <a href="/entry/150250">150250</a>), <a href="#1" class="mim-tip-reference" title="Bicknell, L. S., Farrington-Rock, C., Shafeghati, Y., Rump, P., Alanay, Y., Alembik, Y., Al-Madani, N., Firth, H., Karimi-Nejad, M. H., Kim, C. A., Leask, K., Maisenbacher, M., and 14 others. <strong>A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.</strong> J. Med. Genet. 44: 89-98, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16801345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16801345</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16801345[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.043687" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16801345">Bicknell et al. (2007)</a> identified a heterozygous 679G-A transition in the FLNB gene, resulting in a glu227-to-lys (E227K) substitution. Clinical signs and symptoms of the disorder were variable in this family, although all had the characteristic facies and most had spatulate fingers and supernumerary carpal bones. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16801345" 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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</span>
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</div>
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<a id="0012" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0012 LARSEN SYNDROME</strong>
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</span>
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</h4>
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FLNB, GLY1691SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80356503 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356503;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=rs80356503" 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=rs80356503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030663 OR RCV001064985 OR RCV004795380" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030663, RCV001064985, RCV004795380" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030663...</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>In 6 of 20 unrelated patients with Larsen syndrome (LRS; <a href="/entry/150250">150250</a>), <a href="#1" class="mim-tip-reference" title="Bicknell, L. S., Farrington-Rock, C., Shafeghati, Y., Rump, P., Alanay, Y., Alembik, Y., Al-Madani, N., Firth, H., Karimi-Nejad, M. H., Kim, C. A., Leask, K., Maisenbacher, M., and 14 others. <strong>A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.</strong> J. Med. Genet. 44: 89-98, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16801345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16801345</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16801345[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.043687" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16801345">Bicknell et al. (2007)</a> identified a heterozygous 5071G-A transition in the FLNB gene, resulting in a gly1691-to-ser (G1691S) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16801345" 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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</span>
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</div>
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<a id="0013" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0013 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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FLNB, ARG2004TER
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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> rs121908897 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908897;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/rs121908897?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=rs121908897" 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=rs121908897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006776 OR RCV004808549" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006776, RCV004808549" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006776...</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>In a 5-year-old boy with spondylocarpotarsal synostosis syndrome (SCT; <a href="/entry/272460">272460</a>), <a href="#13" class="mim-tip-reference" title="Mitter, D., Krakow, D., Farrington-Rock, C., Meinecke, P. <strong>Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.</strong> Am. J. Med. Genet. 146A: 779-783, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18257094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18257094</a>] [<a href="https://doi.org/10.1002/ajmg.a.32230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18257094">Mitter et al. (2008)</a> detected a homozygous 6010C-T transition in exon 36 of the FLNB gene, resulting in an arg2004-to-ter (R2004X) substitution. In addition to the typical findings of SCT, the boy demonstrated ossification delay of multiple epiphyses and bilateral proximal femoral epiphyseal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18257094" 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>.0014 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME</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> rs121908898 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908898;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/rs121908898?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=rs121908898" 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=rs121908898" 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=RCV000006777" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006777" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006777</a>
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<p>In an Italian girl with spondylocarpotarsal synostosis syndrome (SCT; <a href="/entry/272460">272460</a>), born of consanguineous parents, <a href="#5" class="mim-tip-reference" title="Brunetti-Pierri, N., Esposito, B., De Brasi, D., Mattiacci, D. M., Krakow, D., Lee, B., Salerno, M. <strong>Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.</strong> Am. J. Med. Genet. 146A: 1230-1233, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18386804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18386804</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18386804[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/10.1002/ajmg.a.32303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18386804">Brunetti-Pierri et al. (2008)</a> identified a homozygous 5548G-T transversion in the FLNB gene, resulting in a gly1850-to-ter (G1850X) substitution. She had short stature, scoliosis, short trunk, delayed bone age, vertebral fusions, and capitate-hamate fusion. She did not have facial dysmorphic features. Growth hormone (GH) deficiency was documented, but there was no response to GH administration. MRI scan did not show any abnormality of the hypothalamo-pituitary area, but there was platybasia and basilar impression, stenosis of the foramen magnum, but no signs of medullary compression at the cervicomedullary junction. A younger brother, who was heterozygous for the mutation, had short stature and transient GH deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18386804" 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>.0015 ATELOSTEOGENESIS, TYPE I</strong>
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FLNB, ALA173THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777259 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777259;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=rs587777259" 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=rs587777259" 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=RCV000114316" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000114316" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000114316</a>
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<p>In a female infant with atelosteogenesis type I (AO1; <a href="/entry/108720">108720</a>) who died 3 hours after birth due to respiratory failure, <a href="#10" class="mim-tip-reference" title="Jeon, G. W., Lee, M.-N., Jung, J. M., Hong, S. Y., Kim, Y. N., Sin, J. B., Ki, C.-S. <strong>Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.</strong> Ann. Lab. Med. 34: 134-138, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24624349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24624349</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24624349[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/10.3343/alm.2014.34.2.134" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24624349">Jeon et al. (2014)</a> identified heterozygosity for a de novo c.517G-A transition in exon 2 of the FLNB gene, resulting in an ala173-to-thr (A173T) substitution in the CH2 homology domain that was predicted to disrupt actin binding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24624349" 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>.0016 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME</strong>
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FLNB, 1-BP DUP, NT1592
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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> rs746105983 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs746105983;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/rs746105983?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=rs746105983" 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=rs746105983" 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=RCV000782185" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000782185" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000782185</a>
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<p>In 3 members of an Indian family (family VII) with spondylocarpotarsal synostosis syndrome (SCT; <a href="/entry/272460">272460</a>), <a href="#14" class="mim-tip-reference" title="Salian, S., Shukla, A., Shah, H., Bhat, S. N., Bhat, V. R., Nampoothiri, S., Shenoy, R., Phadke, S. R., Hariharan, S. V., Girisha, K. M. <strong>Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.</strong> Clin. Genet. 94: 159-164, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29566257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29566257</a>] [<a href="https://doi.org/10.1111/cge.13252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29566257">Salian et al. (2018)</a> identified a homozygous duplication (c.1592dup, NM_001457.3) in the FLNB gene, resulting in a frameshift and a premature termination codon (His532ThrfsTer9). The mutation segregated with the disorder in the family. The patients were 2 boys and a girl, who ranged in age from 6.5 to 12 years. The severity of the phenotype was variable among the sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29566257" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Bicknell2007" class="mim-anchor"></a>
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Bicknell, L. S., Farrington-Rock, C., Shafeghati, Y., Rump, P., Alanay, Y., Alembik, Y., Al-Madani, N., Firth, H., Karimi-Nejad, M. H., Kim, C. A., Leask, K., Maisenbacher, M., and 14 others.
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<strong>A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.</strong>
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J. Med. Genet. 44: 89-98, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16801345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16801345</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16801345[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=16801345" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2006.043687" target="_blank">Full Text</a>]
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Bicknell, L. S., Morgan, T., Bonafe, L., Wessels, M. W., Bialer, M. G., Willems, P. J., Cohn, D. H., Krakow, D., Robertson, S. P.
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<strong>Mutations in FLNB cause boomerang dysplasia.</strong>
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J. Med. Genet. 42: e43, 2005. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15994868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15994868</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15994868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2004.029967" target="_blank">Full Text</a>]
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<a id="Biesecker2004" class="mim-anchor"></a>
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Biesecker, L. G.
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<strong>Phenotype matters.</strong>
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Nature Genet. 36: 323-324, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054484</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054484" 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/ng0404-323" target="_blank">Full Text</a>]
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Brocker, F., Bardenheuer, W., Vieten, L., Julicher, K., Werner, N., Marquitan, G., Michael, D., Opalka, B., Schutte, J.
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<strong>Assignment of human filamin gene FLNB to human chromosome band 3p14.3 and identification of YACs containing the complete FLNB transcribed region.</strong>
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Cytogenet. Cell Genet. 85: 267-268, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10449914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10449914</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10449914" 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/10.1159/000015309" target="_blank">Full Text</a>]
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Brunetti-Pierri, N., Esposito, B., De Brasi, D., Mattiacci, D. M., Krakow, D., Lee, B., Salerno, M.
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<strong>Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.</strong>
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Am. J. Med. Genet. 146A: 1230-1233, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18386804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18386804</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18386804[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=18386804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.32303" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Chakarova2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chakarova, C., Wehnert, M. S., Uhl, K., Sakthivel, S., Vosberg, H.-P., van der Ven, P. F. M., Furst, D. O.
|
|
<strong>Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family.</strong>
|
|
Hum. Genet. 107: 597-611, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11153914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11153914</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11153914" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004390000414" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Farrington-Rock2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Farrington-Rock, C., Firestein, M. H., Bicknell, L. S., Superti-Furga, A., Bacino, C. A., Cormier-Daire, V., Le Merrer, M., Baumann, C., Roume, J., Rump, P., Verheij, J. B. G. M., Sweeney, E., Rimoin, D. L., Lachman, R. S., Robertson, S. P., Cohn, D. H., Krakow, D.
|
|
<strong>Mutations in two regions of FLNB result in atelosteogenesis I and III.</strong>
|
|
Hum. Mutat. 27: 705-710, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752402</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.20348" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Farrington-Rock2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Farrington-Rock, C., Kirilova, V., Dillard-Telm, L., Borowsky, A. D., Chalk, S., Rock, M. J., Cohn, D. H., Krakow, D.
|
|
<strong>Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.</strong>
|
|
Hum. Molec. Genet. 17: 631-641, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17635842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17635842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17635842[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=17635842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddm188" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Hu2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hu, J., Lu, J., Lian, G., Ferland, R. J., Dettenhofer, M., Sheen, V. L.
|
|
<strong>Formin 1 and filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plate.</strong>
|
|
Hum. Molec. Genet. 23: 4663-4673, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24760772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24760772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24760772[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=24760772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddu186" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Jeon2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jeon, G. W., Lee, M.-N., Jung, J. M., Hong, S. Y., Kim, Y. N., Sin, J. B., Ki, C.-S.
|
|
<strong>Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.</strong>
|
|
Ann. Lab. Med. 34: 134-138, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24624349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24624349</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24624349[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=24624349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.3343/alm.2014.34.2.134" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Krakow2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others.
|
|
<strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong>
|
|
Nature Genet. 36: 405-410, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991055</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14991055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng1319" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Leedman1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Leedman, P. J., Faulkner-Jones, B., Cram, D. S., Harrison, P. J., West, J., O'Brien, E., Simpson, R., Coppel, R. L., Harrison, L. C.
|
|
<strong>Cloning from the thyroid of a protein related to actin binding protein that is recognized by Graves disease immunoglobulins.</strong>
|
|
Proc. Nat. Acad. Sci. 90: 5994-5998, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8327473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8327473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8327473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.90.13.5994" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Mitter2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mitter, D., Krakow, D., Farrington-Rock, C., Meinecke, P.
|
|
<strong>Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.</strong>
|
|
Am. J. Med. Genet. 146A: 779-783, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18257094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18257094</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18257094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.32230" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Salian2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Salian, S., Shukla, A., Shah, H., Bhat, S. N., Bhat, V. R., Nampoothiri, S., Shenoy, R., Phadke, S. R., Hariharan, S. V., Girisha, K. M.
|
|
<strong>Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.</strong>
|
|
Clin. Genet. 94: 159-164, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29566257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29566257</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29566257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/cge.13252" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Sheen2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sheen, V. L., Feng, Y., Graham, D., Takafuta, T., Shapiro, S. S., Walsh, C. A.
|
|
<strong>Filamin A and filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.</strong>
|
|
Hum. Molec. Genet. 11: 2845-2854, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12393796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/11.23.2845" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Takafuta1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Takafuta, T., Wu, G., Murphy, G. F., Shapiro, S. S.
|
|
<strong>Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ib-alpha.</strong>
|
|
J. Biol. Chem. 273: 17531-17538, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9651345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9651345</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9651345" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.273.28.17531" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Wessels2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wessels, M. W., Den Hollander, N. S., De Krijger, R. R., Bonife, L., Superti-Furga, A., Nikkels, P. G., Willems, P. J.
|
|
<strong>Prenatal diagnosis of boomerang dysplasia.</strong>
|
|
Am. J. Med. Genet. 122A: 148-154, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12955767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12955767</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12955767" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.20239" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Xu1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Xu, W., Xie, Z., Chung, D. W., Davie, E. W.
|
|
<strong>A novel human actin-binding protein homologue that binds to platelet glycoprotein Ib-alpha.</strong>
|
|
Blood 92: 1268-1276, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9694715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9694715</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9694715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Zhang1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zhang, W., Han, S. W., McKeel, D. W., Goate, A., Wu, J. Y.
|
|
<strong>Interaction of presenilins with the filamin family of actin-binding proteins.</strong>
|
|
J. Neurosci. 18: 914-922, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9437013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9437013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9437013[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=9437013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1523/JNEUROSCI.18-03-00914.1998" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Zhou2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zhou, X., Tian, F., Sandzen, J., Cao, R., Flaberg, E., Szekely, L., Cao, Y., Ohlsson, C., Bergo, M. O., Boren, J., Akyurek, L. M.
|
|
<strong>Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development.</strong>
|
|
Proc. Nat. Acad. Sci. 104: 3919-3924, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17360453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17360453</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17360453[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=17360453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.0608360104" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Joanna S. Amberger - updated : 06/05/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 10/15/2014<br>Marla J. F. O'Neill - updated : 3/31/2014<br>Marla J. F. O'Neill - updated : 8/22/2011<br>Marla J. F. O'Neill - updated : 5/24/2010<br>Cassandra L. Kniffin - updated : 8/21/2008<br>Kelly A. Przylepa - updated : 4/11/2008<br>Cassandra L. Kniffin - updated : 3/23/2007<br>Cassandra L. Kniffin - updated : 2/26/2007<br>Victor A. McKusick - updated : 9/29/2006<br>Marla J. F. O'Neill - updated : 9/19/2005<br>Victor A. McKusick - updated : 4/5/2004<br>George E. Tiller - updated : 3/30/2004<br>Marla J. F. O'Neill - updated : 3/16/2004<br>Victor A. McKusick - updated : 12/18/2000<br>Carol A. Bocchini - updated : 10/1/1999
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</span>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Rebekah S. Rasooly : 12/23/1998
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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="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/05/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 10/15/2014<br>carol : 3/31/2014<br>mcolton : 3/28/2014<br>carol : 8/22/2011<br>terry : 12/8/2010<br>carol : 10/4/2010<br>alopez : 5/24/2010<br>wwang : 10/16/2009<br>terry : 10/15/2009<br>wwang : 8/28/2008<br>ckniffin : 8/21/2008<br>carol : 4/11/2008<br>wwang : 4/11/2007<br>ckniffin : 3/23/2007<br>wwang : 3/2/2007<br>ckniffin : 2/26/2007<br>alopez : 10/13/2006<br>terry : 9/29/2006<br>wwang : 10/5/2005<br>terry : 9/19/2005<br>carol : 1/26/2005<br>alopez : 4/7/2004<br>terry : 4/5/2004<br>alopez : 4/2/2004<br>tkritzer : 3/31/2004<br>tkritzer : 3/30/2004<br>alopez : 3/23/2004<br>alopez : 3/23/2004<br>alopez : 3/22/2004<br>terry : 3/16/2004<br>mcapotos : 1/18/2001<br>terry : 12/18/2000<br>alopez : 9/5/2000<br>carol : 10/1/1999<br>alopez : 12/23/1998<br>alopez : 12/23/1998
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</span>
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</div>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603381
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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FILAMIN B; FLNB
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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FILAMIN, BETA<br />
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ACTIN-BINDING PROTEIN 276/278; ABP276/278
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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-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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TRUNCATED ACTIN-BINDING PROTEIN, INCLUDED; TABP, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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ACTIN-BINDING PROTEIN, TRUNCATED, INCLUDED<br />
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FILAMIN HOMOLOG 1, INCLUDED; FH1, INCLUDED
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</span>
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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: FLNB</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> 254054000, 63387002, 702351004, 725141006, 725142004;
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</span>
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</p>
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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: 3p14.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:58,008,422-58,172,251 </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="5">
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<span class="mim-font">
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3p14.3
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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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Atelosteogenesis, type I
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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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108720
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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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<tr>
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<td>
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<span class="mim-font">
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Atelosteogenesis, type III
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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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108721
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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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<tr>
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<td>
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<span class="mim-font">
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Boomerang dysplasia
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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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112310
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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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<tr>
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<td>
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<span class="mim-font">
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Larsen syndrome
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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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150250
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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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<tr>
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<td>
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<span class="mim-font">
|
|
Spondylocarpotarsal synostosis syndrome
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
272460
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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">
|
|
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">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Filamins, such as FLNB, are actin-binding proteins that also interact with multiple receptors and intracellular proteins that regulate cytoskeleton-dependent cell proliferation, differentiation, and migration (Hu et al., 2014). </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>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>The platelet GpIb complex (see 138720) mediates the adherence of platelets at the site of vascular injury through the binding of GpIb-alpha (231200) to subendothelial von Willebrand factor (VWF; 613160). In platelets, the GpIb complex is tightly bound to the actin cytoskeleton via an interaction of GpIb-alpha with ABP280 (filamin A; 300017). Using a yeast 2-hybrid screen with the cytoplasmic tail of GpIb-alpha as bait, Takafuta et al. (1998) isolated partial cDNAs encoding a novel filamin homolog that they designated beta-filamin. They used the partial cDNAs to screen a placenta library and recovered additional cDNAs corresponding to the entire beta-filamin coding region. Like ABP280, the predicted 2,602-amino acid protein contains an N-terminal actin-binding domain, a backbone of 24 tandem repeats, and 2 hinge regions. Excluding the unique first hinge region of beta-filamin, the sequences of beta-filamin and ABP280 are 70% identical. Antibodies against beta-filamin detected a 280-kD protein on Western blots of human umbilical vein endothelial cell (HUVEC) extracts and stained normal human endothelial cells in culture and in situ. Takafuta et al. (1998) determined that the GpIb-alpha-binding domain in beta-filamin is in repeats 17-20, a region that corresponds to the GpIb-alpha-binding domain in ABP280. Northern blot analysis revealed that beta-filamin is expressed as 2 approximately 9.5-kb mRNAs in many adult tissues. The 2 different transcripts appear to result from use of alternative polyadenylation signals. Takafuta et al. (1998) concluded that beta-filamin is a new member of the filamin family that may have significance for GpIb-alpha function in endothelial cells and platelets. </p><p>Independently, Xu et al. (1998) isolated cDNAs encoding beta-filamin, which they referred to as ABP278. These authors also identified alternatively spliced mRNAs encoding ABP276, a beta-filamin isoform missing the first hinge region. RT-PCR analysis indicated that the 2 isoforms were expressed at different relative levels in various human tissues. </p><p>The addition of thyroid-stimulating hormone (TSH; see 188540) to cultured thyroid follicular cells induces rapid and profound disruption of actin microfilaments. Using serum from a Graves disease (275000) patient, Leedman et al. (1993) identified a thyroid cDNA encoding TABP (truncated actin-binding protein), a predicted 195-amino acid protein with homology to the C terminus of ABP280. Both Xu et al. (1998) and Takafuta et al. (1998) considered TABP to be a truncated form of beta-filamin. </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>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>By analysis of somatic cell hybrids, Zhang et al. (1998) mapped the FH1 gene to chromosome 3. Takafuta et al. (1998) refined the map position to 3p21.1-p14.3 based on inclusion of a previously mapped STS within the beta-filamin sequence. By FISH, Brocker et al. (1999) assigned the FLNB gene to 3p14.3. Chakarova et al. (2000) mapped FLNB to 3p14 by radiation hybrid analysis. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>Using antigen-capture ELISA, Takafuta et al. (1998) found that beta-filamin associates with GpIb-alpha in both platelets and HUVEC extracts. </p><p>Mutations in the presenilin genes PS1 (104311) and PS2 (600759) account for approximately 50% of early-onset familial Alzheimer disease (AD; 104300). Zhang et al. (1998) identified beta-filamin as filamin homolog 1 (FH1), a filamin-related protein that interacts with the loop regions of PS1 and PS2. A monoclonal antibody recognizing both ABP280 and FH1 bound to blood vessels and astrocytes in the normal brain. In the brains of AD patients, Zhang et al. (1998) observed staining also in neurofibrillary tangles, neuropil threads, and dystrophic neurites within some senile plaques. The authors stated that detection of these presenilin-interacting proteins in these brain structures suggests that ABP280 and FH1 may be involved in the development of AD and that interactions between presenilins and ABP280/FH1 may be functionally significant. Takafuta et al. (1998) noted that the FH1 sequence is identical to the C-terminal 291 amino acids of beta-filamin except for 2 residues, making it very likely that FH1 represents the C-terminal region of beta-filamin. </p><p>Krakow et al. (2004) found that FLNB is expressed in human growth plate chondrocytes and in developing vertebral bodies in the mouse. The authors concluded that FLNB plays a role in vertebral segmentation, joint formation, and endochondral ossification. </p><p>Mutation in the X-linked gene filamin A (FLNA) can cause the neurologic disorder periventricular heterotopia (300049). Although periventricular heterotopia is characterized by a failure in neuronal migration into the cerebral cortex with consequent formation of nodules in the ventricular and subventricular zones, many neurons appear to migrate normally, even in males, suggesting compensatory mechanisms. Sheen et al. (2002) showed that, in mice, Flna mRNA was widely expressed in all brain cortical layers, whereas a homolog, Flnb, was most highly expressed in the ventricular and subventricular zones during development. In adulthood, widespread but reduced expression of Flna and Flnb persisted throughout the cerebral cortex. Flna and Flnb proteins were highly expressed in both the leading processes and somata of migratory neurons during corticogenesis. Postnatally, Flna immunoreactivity was largely localized to the cell body, whereas Flnb was localized to the soma and neuropil during neuronal differentiation. The putative Flnb homodimerization domain strongly interacted with itself or the corresponding homologous region of Flna, as shown by yeast 2-hybrid interaction. The 2 proteins colocalized within neuronal precursors by immunocytochemistry, and the existence of Flna-Flnb heterodimers could be detected by coimmunoprecipitation. Sheen et al. (2002) suggested that FLNA and FLNB may form both homodimers and heterodimers, and that their interaction could potentially compensate for the loss of FLNA function during cortical development within patients with periventricular heterotopia. </p><p>Using yeast 2-hybrid and immunoprecipitation analyses, Hu et al. (2014) found that mouse Flnb and Flna interacted directly with the actin nucleating-protein Fmn1 (136535). The filamins and Fmn1 colocalized in cytoplasm and, to a lesser extent, nucleus, and they were coexpressed in chondrocytes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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|
<p>Krakow et al. (2004) identified mutations in the FLNB gene in 4 human skeletal disorders: spondylocarpotarsal syndrome (SCT; 272460), Larsen syndrome (LRS; 150250), type I atelosteogenesis (AO1; 108720), and type III atelosteogenesis (AO3; 108721). </p><p>Biesecker (2004) commented that from the standpoint of the clinical geneticist, 4 distinct disorders result from mutation in the FLNB gene. In contrast, a basic scientist might view them as a single disorder with inconsequential phenotypic differences. The information concerning the multiple disorders caused by mutations in the FLNB gene followed closely on the heels of reports of mutations in the FLNA gene (300017) as the cause of 5 distinct disorders. This was of interest because there are overlapping phenotypic features in the disorders associated with FLNA and FLNB. Biesecker (2004) pointed out that the 'FLNB story' used information from the International Skeletal Dysplasia Registry (ISDR), which is maintained by a skilled group of clinical scientists and includes information on more than 12,000 cases of individuals with disorders that fall into 50 diagnostic groups. One reason for the success of the registry is that it combines clinical service with research archives. The motivation for a clinician to submit cases to the registry is that he or she can receive an expert opinion on the diagnosis (which is useful for medical care and estimating recurrence risks) and, as in the FLNB story, contribute to research. </p><p>In a 22-week male fetus previously studied by Krakow et al. (2004) and a 17-week male fetus previously described by Wessels et al. (2003), both diagnosed with boomerang dysplasia (BOOMD; 112310), Bicknell et al. (2005) identified heterozygosity for mutations in the FLNB gene, leu171 to arg (L171R; 603381.0009) and ser235 to pro (S235P; 603381.0010), respectively. </p><p>Farrington-Rock et al. (2006) found 14 novel missense mutations in FLNB in 15 unrelated patients with atelosteogenesis I and/or atelosteogenesis III. Most of the mutations resided in exons 2 and 3, which encode the CH2 domain of the actin-binding region of filamin B. The remaining mutations were found in exon 28 and exon 29, which encode repeats 14 and 15 of filamin B. Clinical and radiographic data were used to confirm the diagnosis of atelosteogenesis in all the patients. The diagnosis of type I was given to patients showing classic findings of absent, shortened, or distally tapered humeri and femora; absent, shortened, or bowed radii; shortened and bowed ulnae and tibiae; and absent fibulae. Other findings included vertebral hypoplasia with coronal clefts, 11 ribs, shortened wide distal phalanges, and unossified or partially ossified metacarpals and middle and proximal phalanges. In addition, most type I patients showed evidence of a hypoplastic pelvis, dislocations of the hips, elbows, and knees, and clubbed feet. With the exception of 1 patient where the pregnancy was terminated after 24 weeks' gestation, the patients given the diagnosis of type I either died in the neonatal period or were stillborn. The diagnosis of type III was given to patients when all bones were present in the extremities, when there was distal tapering of the humeri or femora, and where the small tubular bones of the hands and feet were shortened and broad. In 2 patients with type III, the fibulae were absent. Dislocation of the elbows, hips, and knees and clubbed feet were also present in the type III patients, as was vertebral hypoplasia with coronal clefting. Cartilage of these patients showed acellular areas within the growth plate and the presence of large multinuclear cells ('giant cells') within the resting zone as had been described previously. </p><p>Bicknell et al. (2007) identified heterozygous mutations in the FLNB gene (see, e.g., 603381.0011; 603381.0012) in 20 unrelated patients with Larsen syndrome. The distribution of mutations within the gene was nonrandom, with clusters of mutations in the actin-binding domains and filamin repeats 13 through 17 being the most common. </p><p>In a female infant with atelosteogenesis who died 3 hours after birth due to respiratory failure, Jeon et al. (2014) performed postmortem exome sequencing and identified heterozygosity for a de novo A173T mutation (603381.0015) in the FLNB gene that was not found in 50 healthy controls. The authors noted that most lethal FLNB-related disorders are caused by de novo mutations, and thus there is a low risk of recurrence in subsequent pregnancies. </p><p>In 7 families with SCT syndrome, Salian et al. (2018) identified 2 nonsense and 5 frameshift variants in the FLNB gene (see, e.g., 603381.0016), all in homozygous state. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Zhou et al. (2007) detected strong expression of the mouse Flnb gene in vascular endothelial cells and chondrocytes. In Flnb -/- mice, the authors observed a phenotype that resembled those of human skeletal disorders with mutations in the FLNB gene. Less than than 3% of Flnb -/- embryos reached term, indicating that the Flnb gene is important in embryonic development, whereas Flnb +/- mice were indistinguishable from their wildtype sibs. Flnb -/- embryos had impaired development of microvasculature and skeletal systems. The few that were born were very small and had scoliotic and kyphotic spines, lack of intervertebral discs, fusion of vertebral bodies, and reduced hyaline matrix in bones of the extremities, thorax, and vertebrae. </p><p>Farrington-Rock et al. (2008) generated Flnb -/- mice and observed a phenotype of short stature and skeletal abnormalities similar to those of individuals with spondylocarpotarsal synostosis syndrome (SCT; 272460). Newborn Flnb -/- mice had fusions between the neural arches of the vertebrae in the cervical and thoracic spine. At postnatal day 60, the vertebral fusions were more widespread and involved the vertebral bodies as well as the neural arches. In addition, fusions were seen in sternum and carpal bones. Analysis of the Flnb -/- mice phenotype showed that an absence of filamin B causes progressive vertebral fusions, in contrast to the previous hypothesis that SCT results from failure of normal spinal segmentation. Farrington-Rock et al. (2008) suggested that spinal segmentation can occur normally in the absence of filamin B, but that the protein is required for maintenance of intervertebral, carpal, and sternal joints, and the joint fusion process commences antenatally. </p><p>Hu et al. (2014) found that knockout (KO) of both Flnb and Fmn1 in mice resulted in a more severe reduction in body size, weight, and growth plate length than that observed in mice with KO of either gene alone. In Flnb/Fmn1 double-KO mice, shortening of long bones was associated with decreased chondrocyte proliferation and an overall delay in ossification. Comparison of Fmn1 KO mice with Flnb/Fmn1 double-KO mice revealed nonoverlapping functions for Fmn1 and Flnb in the prehypertrophic zone, with loss of Fmn1 resulting in a decrease in the width of the prehypertrophic zone, and loss of Flnb causing premature differentiation of the prehypertrophic zone. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>16 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FLNB, SER2137TER
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<br />
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SNP: rs80356521,
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gnomAD: rs80356521,
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ClinVar: RCV000006767
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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 consanguineous family with spondylocarpotarsal syndrome (SCT; 272460), Krakow et al. (2004) found that affected individuals were homozygous for a 6408delC mutation in exon 39 of the FLNB gene that predicted a translational frameshift and a stop codon 4 codons downstream. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FLNB, ARG818TER
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<br />
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SNP: rs80356519,
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gnomAD: rs80356519,
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ClinVar: RCV000006768, RCV003555947
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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 nonconsanguineous family with spondylocarpotarsal syndrome (SCT; 272460), Krakow et al. (2004) found that the affected individual was a compound heterozygote for 2 mutations in the FLNB gene that predicted premature stop codons: arg818 to ter (R818X) and arg1607 to ter (R1607X; 603381.0003). The former mutation was a 2452C-T transition in exon 16; the latter, a 4819C-T transition in exon 28. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FLNB, ARG1607TER
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<br />
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SNP: rs80356520,
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gnomAD: rs80356520,
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ClinVar: RCV000006769
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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 4819C-T transition in exon 28 of the FLNB gene, resulting in an arg1607-to-ter (R1607X) substitution, that was found in compound heterozygous state in a patient with spondylocarpotarsal synostosis syndrome (SCT; 272460) by Krakow et al. (2004), see 603381.0002. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 LARSEN SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FLNB, PHE161CYS
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<br />
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SNP: rs80356506,
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ClinVar: RCV000030660, RCV002276538
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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 family with Larsen syndrome (LRS; 150250), Krakow et al. (2004) found heterozygosity for a de novo missense mutation in the FLNB gene, 482T-G in exon 2, that predicted the substitution phe161-to-cys (F161C) in the second calponin homology domain (CHD2) of filamin B. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0005 LARSEN SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FLNB, GLY1586ARG
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<br />
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SNP: rs80356513,
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ClinVar: RCV000030661
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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 an individual with sporadically occurring Larsen syndrome (LRS; 150250), Krakow et al. (2004) found heterozygosity for a de novo mutation in the FLNB gene, 4756G-A in exon 29, that predicted the substitution gly1586-to-arg (G1586R) in repeat 14 of the protein. </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>.0006 ATELOSTEOGENESIS, TYPE I</strong>
|
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</span>
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</h4>
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</div>
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<div>
|
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<span class="mim-text-font">
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FLNB, ALA173VAL
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<br />
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SNP: rs121908894,
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ClinVar: RCV000006770, RCV003318540
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an individual with atelosteogenesis type I (AO1; 108720), Krakow et al. (2004) found heterozygosity for a point mutation, 518C-T, in exon 2 of the FNLB gene predicting an ala173-to-val (A173V) substitution in the second calponin homology domain (CHD2) of filamin B. </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>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0007 ATELOSTEOGENESIS, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
ATELOSTEOGENESIS, TYPE III, INCLUDED
|
|
</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
|
FLNB, MET202VAL
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<br />
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|
|
SNP: rs121908895,
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|
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ClinVar: RCV000006771, RCV000006772
|
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|
|
</span>
|
|
</div>
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|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 1 individual with AO1 (108720) and in 1 with atelosteogenesis type III (AO3; 108721), Krakow et al. (2004) found heterozygosity for the same point mutation in exon 3 of the FLNB gene, 604A-G, predicting a met202-to-val (M202V) substitution in the second calponin homology domain (CHD2) of the protein. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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</div>
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|
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 ATELOSTEOGENESIS, TYPE III</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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FLNB, GLY751ARG
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<br />
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SNP: rs28937587,
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ClinVar: RCV000006773, RCV000508566
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an individual with atelosteogenesis type III (AO3; 108721), Krakow et al. (2004) found heterozygosity for a point mutation in exon 15 of the FLNB gene, 2251G-C, predicting a gly751-to-arg (G751R) substitution in repeat 6 of filamin B. </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>.0009 BOOMERANG DYSPLASIA</strong>
|
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</span>
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</h4>
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</div>
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<div>
|
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<span class="mim-text-font">
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FLNBA, LEU171ARG
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<br />
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|
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SNP: rs80356494,
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ClinVar: RCV000006774
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 22-week male fetus with boomerang dysplasia (BOOMD; 112310), previously studied by Krakow et al. (2004), Bicknell et al. (2005) identified heterozygosity for a 512T-G transversion in the FLNB gene, predicted to cause a leu171-to-arg (L171R) substitution in the second calponin homology domain of filamin B. The authors noted that this residue is highly evolutionarily conserved among vertebrate filamins. The mutation was not found in the unaffected parents. </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>.0010 BOOMERANG DYSPLASIA</strong>
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</span>
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</h4>
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</div>
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<div>
|
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<span class="mim-text-font">
|
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FLNB, SER235PRO
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<br />
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SNP: rs121908896,
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ClinVar: RCV000006775
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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 17-week male fetus with boomerang dysplasia (BOOMD; 112310), previously described by Wessels et al. (2003), Bicknell et al. (2005) identified heterozygosity for a 703T-C transition in exon 4 of the FLNB gene, predicted to cause a ser235-to-pro (S235P) substitution in the second calponin homology domain of filamin B. The authors noted that this residue is highly evolutionarily conserved among vertebrate filamins. The mutation was not found in 100 control chromosomes. </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>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 LARSEN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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FLNB, GLU227LYS
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<br />
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SNP: rs80356508,
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|
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ClinVar: RCV000030662, RCV001582470, RCV004734500
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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 13 affected individuals from a large family with Larsen syndrome (LRS; 150250), Bicknell et al. (2007) identified a heterozygous 679G-A transition in the FLNB gene, resulting in a glu227-to-lys (E227K) substitution. Clinical signs and symptoms of the disorder were variable in this family, although all had the characteristic facies and most had spatulate fingers and supernumerary carpal bones. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0012 LARSEN SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FLNB, GLY1691SER
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<br />
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SNP: rs80356503,
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|
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ClinVar: RCV000030663, RCV001064985, RCV004795380
|
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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 6 of 20 unrelated patients with Larsen syndrome (LRS; 150250), Bicknell et al. (2007) identified a heterozygous 5071G-A transition in the FLNB gene, resulting in a gly1691-to-ser (G1691S) substitution. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0013 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FLNB, ARG2004TER
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<br />
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SNP: rs121908897,
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gnomAD: rs121908897,
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ClinVar: RCV000006776, RCV004808549
|
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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 5-year-old boy with spondylocarpotarsal synostosis syndrome (SCT; 272460), Mitter et al. (2008) detected a homozygous 6010C-T transition in exon 36 of the FLNB gene, resulting in an arg2004-to-ter (R2004X) substitution. In addition to the typical findings of SCT, the boy demonstrated ossification delay of multiple epiphyses and bilateral proximal femoral epiphyseal dysplasia. </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>.0014 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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FLNB, GLY1850TER
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<br />
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SNP: rs121908898,
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gnomAD: rs121908898,
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ClinVar: RCV000006777
|
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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 an Italian girl with spondylocarpotarsal synostosis syndrome (SCT; 272460), born of consanguineous parents, Brunetti-Pierri et al. (2008) identified a homozygous 5548G-T transversion in the FLNB gene, resulting in a gly1850-to-ter (G1850X) substitution. She had short stature, scoliosis, short trunk, delayed bone age, vertebral fusions, and capitate-hamate fusion. She did not have facial dysmorphic features. Growth hormone (GH) deficiency was documented, but there was no response to GH administration. MRI scan did not show any abnormality of the hypothalamo-pituitary area, but there was platybasia and basilar impression, stenosis of the foramen magnum, but no signs of medullary compression at the cervicomedullary junction. A younger brother, who was heterozygous for the mutation, had short stature and transient GH deficiency. </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>.0015 ATELOSTEOGENESIS, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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FLNB, ALA173THR
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<br />
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SNP: rs587777259,
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|
|
ClinVar: RCV000114316
|
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|
</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female infant with atelosteogenesis type I (AO1; 108720) who died 3 hours after birth due to respiratory failure, Jeon et al. (2014) identified heterozygosity for a de novo c.517G-A transition in exon 2 of the FLNB gene, resulting in an ala173-to-thr (A173T) substitution in the CH2 homology domain that was predicted to disrupt actin binding. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
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|
</div>
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<div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
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|
|
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FLNB, 1-BP DUP, NT1592
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|
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<br />
|
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|
|
SNP: rs746105983,
|
|
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|
|
|
gnomAD: rs746105983,
|
|
|
|
|
|
ClinVar: RCV000782185
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 members of an Indian family (family VII) with spondylocarpotarsal synostosis syndrome (SCT; 272460), Salian et al. (2018) identified a homozygous duplication (c.1592dup, NM_001457.3) in the FLNB gene, resulting in a frameshift and a premature termination codon (His532ThrfsTer9). The mutation segregated with the disorder in the family. The patients were 2 boys and a girl, who ranged in age from 6.5 to 12 years. The severity of the phenotype was variable among the sibs. </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>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
|
<ol>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Bicknell, L. S., Farrington-Rock, C., Shafeghati, Y., Rump, P., Alanay, Y., Alembik, Y., Al-Madani, N., Firth, H., Karimi-Nejad, M. H., Kim, C. A., Leask, K., Maisenbacher, M., and 14 others.
|
|
<strong>A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.</strong>
|
|
J. Med. Genet. 44: 89-98, 2007.
|
|
|
|
|
|
[PubMed: 16801345]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.2006.043687]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bicknell, L. S., Morgan, T., Bonafe, L., Wessels, M. W., Bialer, M. G., Willems, P. J., Cohn, D. H., Krakow, D., Robertson, S. P.
|
|
<strong>Mutations in FLNB cause boomerang dysplasia.</strong>
|
|
J. Med. Genet. 42: e43, 2005. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 15994868]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.2004.029967]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Biesecker, L. G.
|
|
<strong>Phenotype matters.</strong>
|
|
Nature Genet. 36: 323-324, 2004.
|
|
|
|
|
|
[PubMed: 15054484]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0404-323]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brocker, F., Bardenheuer, W., Vieten, L., Julicher, K., Werner, N., Marquitan, G., Michael, D., Opalka, B., Schutte, J.
|
|
<strong>Assignment of human filamin gene FLNB to human chromosome band 3p14.3 and identification of YACs containing the complete FLNB transcribed region.</strong>
|
|
Cytogenet. Cell Genet. 85: 267-268, 1999.
|
|
|
|
|
|
[PubMed: 10449914]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000015309]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brunetti-Pierri, N., Esposito, B., De Brasi, D., Mattiacci, D. M., Krakow, D., Lee, B., Salerno, M.
|
|
<strong>Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.</strong>
|
|
Am. J. Med. Genet. 146A: 1230-1233, 2008.
|
|
|
|
|
|
[PubMed: 18386804]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.32303]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chakarova, C., Wehnert, M. S., Uhl, K., Sakthivel, S., Vosberg, H.-P., van der Ven, P. F. M., Furst, D. O.
|
|
<strong>Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family.</strong>
|
|
Hum. Genet. 107: 597-611, 2000.
|
|
|
|
|
|
[PubMed: 11153914]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390000414]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Farrington-Rock, C., Firestein, M. H., Bicknell, L. S., Superti-Furga, A., Bacino, C. A., Cormier-Daire, V., Le Merrer, M., Baumann, C., Roume, J., Rump, P., Verheij, J. B. G. M., Sweeney, E., Rimoin, D. L., Lachman, R. S., Robertson, S. P., Cohn, D. H., Krakow, D.
|
|
<strong>Mutations in two regions of FLNB result in atelosteogenesis I and III.</strong>
|
|
Hum. Mutat. 27: 705-710, 2006.
|
|
|
|
|
|
[PubMed: 16752402]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.20348]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Farrington-Rock, C., Kirilova, V., Dillard-Telm, L., Borowsky, A. D., Chalk, S., Rock, M. J., Cohn, D. H., Krakow, D.
|
|
<strong>Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.</strong>
|
|
Hum. Molec. Genet. 17: 631-641, 2008.
|
|
|
|
|
|
[PubMed: 17635842]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddm188]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hu, J., Lu, J., Lian, G., Ferland, R. J., Dettenhofer, M., Sheen, V. L.
|
|
<strong>Formin 1 and filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plate.</strong>
|
|
Hum. Molec. Genet. 23: 4663-4673, 2014.
|
|
|
|
|
|
[PubMed: 24760772]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddu186]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jeon, G. W., Lee, M.-N., Jung, J. M., Hong, S. Y., Kim, Y. N., Sin, J. B., Ki, C.-S.
|
|
<strong>Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.</strong>
|
|
Ann. Lab. Med. 34: 134-138, 2014.
|
|
|
|
|
|
[PubMed: 24624349]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3343/alm.2014.34.2.134]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., and 13 others.
|
|
<strong>Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.</strong>
|
|
Nature Genet. 36: 405-410, 2004.
|
|
|
|
|
|
[PubMed: 14991055]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1319]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Leedman, P. J., Faulkner-Jones, B., Cram, D. S., Harrison, P. J., West, J., O'Brien, E., Simpson, R., Coppel, R. L., Harrison, L. C.
|
|
<strong>Cloning from the thyroid of a protein related to actin binding protein that is recognized by Graves disease immunoglobulins.</strong>
|
|
Proc. Nat. Acad. Sci. 90: 5994-5998, 1993.
|
|
|
|
|
|
[PubMed: 8327473]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.90.13.5994]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mitter, D., Krakow, D., Farrington-Rock, C., Meinecke, P.
|
|
<strong>Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.</strong>
|
|
Am. J. Med. Genet. 146A: 779-783, 2008.
|
|
|
|
|
|
[PubMed: 18257094]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.32230]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Salian, S., Shukla, A., Shah, H., Bhat, S. N., Bhat, V. R., Nampoothiri, S., Shenoy, R., Phadke, S. R., Hariharan, S. V., Girisha, K. M.
|
|
<strong>Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.</strong>
|
|
Clin. Genet. 94: 159-164, 2018.
|
|
|
|
|
|
[PubMed: 29566257]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/cge.13252]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sheen, V. L., Feng, Y., Graham, D., Takafuta, T., Shapiro, S. S., Walsh, C. A.
|
|
<strong>Filamin A and filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.</strong>
|
|
Hum. Molec. Genet. 11: 2845-2854, 2002.
|
|
|
|
|
|
[PubMed: 12393796]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/11.23.2845]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Takafuta, T., Wu, G., Murphy, G. F., Shapiro, S. S.
|
|
<strong>Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ib-alpha.</strong>
|
|
J. Biol. Chem. 273: 17531-17538, 1998.
|
|
|
|
|
|
[PubMed: 9651345]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.273.28.17531]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wessels, M. W., Den Hollander, N. S., De Krijger, R. R., Bonife, L., Superti-Furga, A., Nikkels, P. G., Willems, P. J.
|
|
<strong>Prenatal diagnosis of boomerang dysplasia.</strong>
|
|
Am. J. Med. Genet. 122A: 148-154, 2003.
|
|
|
|
|
|
[PubMed: 12955767]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.20239]
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Xu, W., Xie, Z., Chung, D. W., Davie, E. W.
|
|
<strong>A novel human actin-binding protein homologue that binds to platelet glycoprotein Ib-alpha.</strong>
|
|
Blood 92: 1268-1276, 1998.
|
|
|
|
|
|
[PubMed: 9694715]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zhang, W., Han, S. W., McKeel, D. W., Goate, A., Wu, J. Y.
|
|
<strong>Interaction of presenilins with the filamin family of actin-binding proteins.</strong>
|
|
J. Neurosci. 18: 914-922, 1998.
|
|
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[PubMed: 9437013]
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[Full Text: https://doi.org/10.1523/JNEUROSCI.18-03-00914.1998]
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Zhou, X., Tian, F., Sandzen, J., Cao, R., Flaberg, E., Szekely, L., Cao, Y., Ohlsson, C., Bergo, M. O., Boren, J., Akyurek, L. M.
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<strong>Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development.</strong>
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Proc. Nat. Acad. Sci. 104: 3919-3924, 2007.
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[PubMed: 17360453]
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[Full Text: https://doi.org/10.1073/pnas.0608360104]
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Joanna S. Amberger - updated : 06/05/2019<br>Patricia A. Hartz - updated : 10/15/2014<br>Marla J. F. O'Neill - updated : 3/31/2014<br>Marla J. F. O'Neill - updated : 8/22/2011<br>Marla J. F. O'Neill - updated : 5/24/2010<br>Cassandra L. Kniffin - updated : 8/21/2008<br>Kelly A. Przylepa - updated : 4/11/2008<br>Cassandra L. Kniffin - updated : 3/23/2007<br>Cassandra L. Kniffin - updated : 2/26/2007<br>Victor A. McKusick - updated : 9/29/2006<br>Marla J. F. O'Neill - updated : 9/19/2005<br>Victor A. McKusick - updated : 4/5/2004<br>George E. Tiller - updated : 3/30/2004<br>Marla J. F. O'Neill - updated : 3/16/2004<br>Victor A. McKusick - updated : 12/18/2000<br>Carol A. Bocchini - updated : 10/1/1999
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Rebekah S. Rasooly : 12/23/1998
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