3222 lines
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Entry
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- *610148 - BBS10 GENE; BBS10
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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">*610148</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/610148">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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 class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000179941;t=ENST00000650064" 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=79738" 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=610148" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000179941;t=ENST00000650064" 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_024685" 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_024685" 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=610148" 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=08036&isoform_id=08036_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/BBS10" 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/10440290,15489408,97043964,100816407,112180700,119617728,119617729,221044902,226879165,226879167,676254201" 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/Q8TAM1" 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=79738" 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=ENSG00000179941;t=ENST00000650064" 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=BBS10" 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=BBS10" 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+79738" 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/BBS10" 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:79738" 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/79738" 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=chr12&hgg_gene=ENST00000650064.2&hgg_start=76344474&hgg_end=76348415&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:26291" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/bbs10" 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=610148[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=610148[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/BBS10/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/ENSG00000179941" 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.gwascentral.org/search?q=BBS10" 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=BBS10" 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="http://www.euro-wabb.org/en/lovd-genetic-variation-database" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=BBS10&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/PA143485387" 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:26291" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1919019" 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/BBS10#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:1919019" 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/79738/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=79738" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060503-355" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=BBS10&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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610148
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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BBS10 GENE; BBS10
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
CHROMOSOME 12 OPEN READING FRAME 58; C12ORF58<br />
|
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FLJ23560
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=BBS10" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">BBS10</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/12/640?start=-3&limit=10&highlight=640">12q21.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:76344474-76348415&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'})">12:76,344,474-76,348,415</a> </span>
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</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="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/12/640?start=-3&limit=10&highlight=640">
|
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12q21.2
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Bardet-Biedl syndrome 10
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/615987"> 615987 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/610148" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/610148" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
|
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#5" class="mim-tip-reference" title="Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., and 23 others. <strong>BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.</strong> Nature Genet. 38: 521-524, 2006. Note; Erratum: Nature Genet. 38: 727 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582908</a>] [<a href="https://doi.org/10.1038/ng1771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582908">Stoetzel et al. (2006)</a> identified the C12ORF58 gene in a genomewide scan for novel Bardet-Biedl syndrome (BBS; <a href="/entry/209900">209900</a>) genes. The C12ORF58 gene encodes a 723-amino acid protein that defines a novel chaperonin subfamily. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16582908" 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 C12ORF58 gene is composed of 2 exons (<a href="#5" class="mim-tip-reference" title="Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., and 23 others. <strong>BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.</strong> Nature Genet. 38: 521-524, 2006. Note; Erratum: Nature Genet. 38: 727 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582908</a>] [<a href="https://doi.org/10.1038/ng1771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582908">Stoetzel et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16582908" 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 C12ORF58 gene maps to chromosome 12q (<a href="#5" class="mim-tip-reference" title="Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., and 23 others. <strong>BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.</strong> Nature Genet. 38: 521-524, 2006. Note; Erratum: Nature Genet. 38: 727 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582908</a>] [<a href="https://doi.org/10.1038/ng1771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582908">Stoetzel et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16582908" 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="#3" class="mim-tip-reference" title="Marion, V., Stoetzel, C., Schlicht, D., Messaddeq, N., Koch, M., Flori, E., Danse, J. M., Mandel, J.-L., Dollfus, H. <strong>Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.</strong> Proc. Nat. Acad. Sci. 106: 1820-1825, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19190184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19190184</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19190184[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.0812518106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19190184">Marion et al. (2009)</a> found that human preadipocytes transiently formed a primary cilium that carried Wnt (see WNT1; <a href="/entry/164820">164820</a>) and hedgehog (see SHH; <a href="/entry/600725">600725</a>) receptors during preadipocyte differentiation. Immunohistochemical showed that both BBS10 and BBS12 (<a href="/entry/610683">610683</a>) localized to the basal body of this primary cilium, and both proteins maintained this localization in unciliated fat cells. Knockdown of BBS10 and BBS12 expression by RNA interference reduced the number of ciliated cells and increased the amount of unphosphorylated active GSK3 (see GSK3A; <a href="/entry/606784">606784</a>), a key regulator of adipogenesis that is repressed by Wnt signaling. Furthermore, differentiation of BBS10 and BBS12 patient fibroblasts into fat-accumulating cells was associated with increased triglyceride content compared with control cells. <a href="#3" class="mim-tip-reference" title="Marion, V., Stoetzel, C., Schlicht, D., Messaddeq, N., Koch, M., Flori, E., Danse, J. M., Mandel, J.-L., Dollfus, H. <strong>Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.</strong> Proc. Nat. Acad. Sci. 106: 1820-1825, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19190184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19190184</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19190184[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.0812518106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19190184">Marion et al. (2009)</a> concluded that a primary dysfunction of adipogenesis results in the development of obesity in BBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19190184" 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 population-based study including 93 BBS patients from 74 families of various ethnicities, <a href="#1" class="mim-tip-reference" title="Billingsley, G., Bin, J., Fieggen, K. J., Duncan, J. L., Gerth, C., Ogata, K., Wodak, S. S., Traboulsi, E. I., Fishman, G. A., Paterson, A., Chitayat, D., Knueppel, T., Millan, J. M., Mitchell, G. A., Deveault, C., Heon, E. <strong>Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.</strong> J. Med. Genet. 47: 453-463, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20472660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20472660</a>] [<a href="https://doi.org/10.1136/jmg.2009.073205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20472660">Billingsley et al. (2010)</a> determined that the chaperonin-like BBS6 (<a href="/entry/604896">604896</a>), BBS10, and BBS12 genes are a major contributor to the disorder. Biallelic mutations in these 3 genes were found in 36.5% of the families: 4 patients had mutations in BBS6, 19 had mutations in BBS10, and 10 had mutations in BBS12. Overall, 26 (68%) of 38 mutations were novel. Six patients had mutations present in more than 1 chaperonin-like BBS gene, and 1 patient with a very severe phenotype had 4 mutations in BBS10. The phenotypes observed were beyond the classic BBS phenotype and overlapped with characteristics of MKKS (<a href="/entry/236700">236700</a>), including congenital heart defect, vaginal atresia, hydrometrocolpos, and cryptorchidism, and with Alstrom syndrome (<a href="/entry/203800">203800</a>), including diabetes, hearing loss, liver abnormalities, endocrine anomalies, and cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20472660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a large, consanguineous kindred of Lebanese origin with Bardet-Biedl syndrome-10 (BBS10; <a href="/entry/615987">615987</a>), <a href="#5" class="mim-tip-reference" title="Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., and 23 others. <strong>BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.</strong> Nature Genet. 38: 521-524, 2006. Note; Erratum: Nature Genet. 38: 727 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582908</a>] [<a href="https://doi.org/10.1038/ng1771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582908">Stoetzel et al. (2006)</a> identified a homozygous missense mutation in the C12ORF58 gene (S311A; <a href="#0004">610148.0004</a>). The mutation, which was found by linkage analysis followed by candidate gene sequencing, was not present in 107 Lebanese or 50 European control individuals. Analysis of this gene in a few multiplex or consanguineous families in which linkage analysis was compatible with a chromosome 12 locus uncovered several truncating mutations (see, e.g., <a href="#0001">610148.0001</a>), indicating that C12ORF58 indeed represented a new BBS locus, BBS10. <a href="#5" class="mim-tip-reference" title="Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., and 23 others. <strong>BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.</strong> Nature Genet. 38: 521-524, 2006. Note; Erratum: Nature Genet. 38: 727 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582908</a>] [<a href="https://doi.org/10.1038/ng1771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582908">Stoetzel et al. (2006)</a> found C12ORF58 to be mutated in about 20% of an unselected cohort of families of various ethnic origins, including some families with mutations in other BBS genes, consistent with oligogenic inheritance. In zebrafish, mild suppression of bbs10 exacerbated the phenotypes of other bbs morphants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16582908" 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="#4" class="mim-tip-reference" title="Putoux, A., Mougou-Zerelli, S., Thomas, S., Elkhartoufi, N., Audollent, S., Le Merrer, M., Lachmeijer, A., Sigaudy, S., Buenerd, A., Fernandez, C, Delezoide, A.-L., Gubler, M.-C., Salomon, R., Saad, A., Cordier, M.-P., Vekemans, M., Bouvier, R., Attie-Bitach, T. <strong>BBS10 mutations are common in 'Meckel'-type cystic kidneys.</strong> J. Med. Genet. 47: 848-852, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20805367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20805367</a>] [<a href="https://doi.org/10.1136/jmg.2010.079392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20805367">Putoux et al. (2010)</a> identified homozygous or compound heterozygous C12ORF58 mutations in 5 of 21 patients with antenatal onset of severe renal cystic anomalies and polydactyly, without the biliary or hepatic abnormalities characteristic of Meckel syndrome (MKS; <a href="/entry/249000">249000</a>); the phenotype was thus consistent with BBS. Four of the patients were fetuses between ages 21 and 26 weeks' gestation, and the fifth was a 20-year-old woman with BBS who was found to have hyperechogenic kidneys and polydactyly on antenatal ultrasound. The most common mutation was a 1-bp duplication (271dupT; <a href="#0001">610148.0001</a>), found on 6 of 10 mutant C12ORF58 alleles. <a href="#4" class="mim-tip-reference" title="Putoux, A., Mougou-Zerelli, S., Thomas, S., Elkhartoufi, N., Audollent, S., Le Merrer, M., Lachmeijer, A., Sigaudy, S., Buenerd, A., Fernandez, C, Delezoide, A.-L., Gubler, M.-C., Salomon, R., Saad, A., Cordier, M.-P., Vekemans, M., Bouvier, R., Attie-Bitach, T. <strong>BBS10 mutations are common in 'Meckel'-type cystic kidneys.</strong> J. Med. Genet. 47: 848-852, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20805367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20805367</a>] [<a href="https://doi.org/10.1136/jmg.2010.079392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20805367">Putoux et al. (2010)</a> noted that the diagnosis of severe lethal BBS is suggested in utero by the findings of severe cystic kidneys and polydactyly without biliary dysgenesis or brain anomalies, and concluded that mutations in the C12ORF58 gene may account for a high percentage of such cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20805367" 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="#5" class="mim-tip-reference" title="Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., and 23 others. <strong>BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.</strong> Nature Genet. 38: 521-524, 2006. Note; Erratum: Nature Genet. 38: 727 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582908</a>] [<a href="https://doi.org/10.1038/ng1771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582908">Stoetzel et al. (2006)</a> modeled loss of function of the BBS10 gene in zebrafish. Suppression of the maternal bbs10 message caused shortening of the rostrocaudal body axis; dorsal thinning, broadening, and kinking of the notochord; elongation of the somites; and decreased somitic definition and symmetry. Mild suppression of bbs10 exacerbated the phenotypes of other bbs morphants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16582908" 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> rs549625604 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs549625604;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/rs549625604?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=rs549625604" 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=rs549625604" 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=RCV000001391 OR RCV000144680 OR RCV000168127 OR RCV000487323 OR RCV000504690 OR RCV000623309 OR RCV000709625 OR RCV001074512 OR RCV003407252" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001391, RCV000144680, RCV000168127, RCV000487323, RCV000504690, RCV000623309, RCV000709625, RCV001074512, RCV003407252" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001391...</a>
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<p>The most common mutation in the BBS10 gene found by <a href="#5" class="mim-tip-reference" title="Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., and 23 others. <strong>BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.</strong> Nature Genet. 38: 521-524, 2006. Note; Erratum: Nature Genet. 38: 727 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582908</a>] [<a href="https://doi.org/10.1038/ng1771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582908">Stoetzel et al. (2006)</a> among families with Bardet-Biedl syndrome (BBS10; <a href="/entry/615987">615987</a>) was a 1-bp insertion (271dupT) in residue 91 leading to premature termination 4 codons later (Cys91fsTer95). The 271dupT mutation accounted for 46% of BBS10 mutant alleles. Although this allele was most frequent in Europeans, reminiscent of the prevalence of the M390R mutation (<a href="/entry/209901#0001">209901.0001</a>) in Europeans in BBS1, <a href="#5" class="mim-tip-reference" title="Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., and 23 others. <strong>BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.</strong> Nature Genet. 38: 521-524, 2006. Note; Erratum: Nature Genet. 38: 727 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582908</a>] [<a href="https://doi.org/10.1038/ng1771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582908">Stoetzel et al. (2006)</a> also found it in families of Turkish and Afghan origin, suggesting that it may represent either an ancient allele or a site of recurrent mutations. A SNP-based haplotype analysis showed the former to be the likely case, since a common haplotype on the 271dupT-bearing chromosome extending at least 175 kb distally in all ethnic groups in the cohort was found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16582908" 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="#4" class="mim-tip-reference" title="Putoux, A., Mougou-Zerelli, S., Thomas, S., Elkhartoufi, N., Audollent, S., Le Merrer, M., Lachmeijer, A., Sigaudy, S., Buenerd, A., Fernandez, C, Delezoide, A.-L., Gubler, M.-C., Salomon, R., Saad, A., Cordier, M.-P., Vekemans, M., Bouvier, R., Attie-Bitach, T. <strong>BBS10 mutations are common in 'Meckel'-type cystic kidneys.</strong> J. Med. Genet. 47: 848-852, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20805367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20805367</a>] [<a href="https://doi.org/10.1136/jmg.2010.079392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20805367">Putoux et al. (2010)</a> identified the 271dupT mutation in exon 2 of the BBS10 gene in 4 unrelated fetuses and a patient who presented antenatally with cystic renal anomalies and polydactyly. One fetus was homozygous, and 3 were compound heterozygous with another pathogenic BBS10 mutation (see, e.g., <a href="#0006">610148.0006</a> and <a href="#0007">610148.0007</a>); the fifth patient, a 20-year-old woman with BBS, was homozygous for 271dupT and also carried a truncating mutation in the BBS6 gene (<a href="/entry/604896">604896</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20805367" 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">rs137852836 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852836;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=rs137852836" 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=rs137852836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>Of 16 different missense mutations of the BBS10 gene detected by <a href="#5" class="mim-tip-reference" title="Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., and 23 others. <strong>BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.</strong> Nature Genet. 38: 521-524, 2006. Note; Erratum: Nature Genet. 38: 727 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582908</a>] [<a href="https://doi.org/10.1038/ng1771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582908">Stoetzel et al. (2006)</a> in families with Bardet-Biedl syndrome (BBS10; <a href="/entry/615987">615987</a>), arg34-to-pro (R24P) was the one closest to the N terminus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16582908" 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> rs780059308 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs780059308;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/rs780059308?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=rs780059308" 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=rs780059308" 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=RCV000497796 OR RCV000811417 OR RCV000984153 OR RCV002508143 OR RCV003403151" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000497796, RCV000811417, RCV000984153, RCV002508143, RCV003403151" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000497796...</a>
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<p>In a family with Bardet-Biedl syndrome (BBS10; <a href="/entry/615987">615987</a>), <a href="#5" class="mim-tip-reference" title="Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., and 23 others. <strong>BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.</strong> Nature Genet. 38: 521-524, 2006. Note; Erratum: Nature Genet. 38: 727 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582908</a>] [<a href="https://doi.org/10.1038/ng1771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582908">Stoetzel et al. (2006)</a> detected a single BBS10 mutation, Ser303fsTer305, in association with 2 bona fide BBS1 mutations, M390R (<a href="/entry/209901#0001">209901.0001</a>) and E549X (<a href="/entry/209901#0002">209901.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16582908" 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">rs137852837 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852837;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=rs137852837" 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=rs137852837" 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=RCV000001394 OR RCV001093324 OR RCV001328242 OR RCV004814790" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001394, RCV001093324, RCV001328242, RCV004814790" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001394...</a>
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<p>In the large consanguineous Lebanese family in which Bardet-Biedl syndrome (BBS10; <a href="/entry/615987">615987</a>) showing linkage to chromosome 12q was identified, <a href="#5" class="mim-tip-reference" title="Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., and 23 others. <strong>BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.</strong> Nature Genet. 38: 521-524, 2006. Note; Erratum: Nature Genet. 38: 727 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582908</a>] [<a href="https://doi.org/10.1038/ng1771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582908">Stoetzel et al. (2006)</a> detected a homozygous ser311-to-ala (S311A) amino acid change in the BBS10 gene as the cause of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16582908" 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 the only affected individual from a sibship within a large consanguineous Lebanese kindred with Bardet-Biedl syndrome reported by <a href="#5" class="mim-tip-reference" title="Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., and 23 others. <strong>BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.</strong> Nature Genet. 38: 521-524, 2006. Note; Erratum: Nature Genet. 38: 727 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582908</a>] [<a href="https://doi.org/10.1038/ng1771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582908">Stoetzel et al. (2006)</a>, <a href="#2" class="mim-tip-reference" title="Laurier, V., Stoetzel, C., Muller, J., Thibault, C., Corbani, S., Jalkh, N., Salem, N., Chouery, E., Poch, O., Licaire, S., Danse, J.-M., Amati-Bonneau, P., Bonneau, D., Megarbane, A., Mandel, J.-L., Dollfus, H. <strong>Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.</strong> Europ. J. Hum. Genet. 14: 1195-1203, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16823392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16823392</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201688" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16823392">Laurier et al. (2006)</a> found compound heterozygosity for the S311A mutation and a val11-to-gly (V11G) mutation (<a href="#0005">610148.0005</a>) in the BBS10 gene. Affected individuals from 3 other sibships in this kindred were homozygous for the S311A mutation. <a href="#2" class="mim-tip-reference" title="Laurier, V., Stoetzel, C., Muller, J., Thibault, C., Corbani, S., Jalkh, N., Salem, N., Chouery, E., Poch, O., Licaire, S., Danse, J.-M., Amati-Bonneau, P., Bonneau, D., Megarbane, A., Mandel, J.-L., Dollfus, H. <strong>Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.</strong> Europ. J. Hum. Genet. 14: 1195-1203, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16823392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16823392</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201688" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16823392">Laurier et al. (2006)</a> commented on the unusual finding of homozygosity and compound heterozygosity for mutations in the same gene within a single large consanguineous kindred. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16823392+16582908" 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">rs137852838 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852838;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=rs137852838" 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=rs137852838" 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=RCV000001395" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001395" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001395</a>
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<p>For discussion of the val11-to-gly (V11G) mutation in the BBS10 gene that was found in compound heterozygous state in a patient with Bardet-Biedl syndrome (BBS10; <a href="/entry/615987">615987</a>) by <a href="#2" class="mim-tip-reference" title="Laurier, V., Stoetzel, C., Muller, J., Thibault, C., Corbani, S., Jalkh, N., Salem, N., Chouery, E., Poch, O., Licaire, S., Danse, J.-M., Amati-Bonneau, P., Bonneau, D., Megarbane, A., Mandel, J.-L., Dollfus, H. <strong>Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.</strong> Europ. J. Hum. Genet. 14: 1195-1203, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16823392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16823392</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201688" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16823392">Laurier et al. (2006)</a>, see <a href="#0004">610148.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16823392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 BARDET-BIEDL SYNDROME 10</strong>
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BBS10, 2-BP DEL, 1044TT
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777837 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777837;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=rs587777837" 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=rs587777837" 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=RCV000023802 OR RCV000735922" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023802, RCV000735922" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023802...</a>
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<p>In 2 fetuses diagnosed with Bardet-Biedl syndrome (BBS10; <a href="/entry/615987">615987</a>), <a href="#4" class="mim-tip-reference" title="Putoux, A., Mougou-Zerelli, S., Thomas, S., Elkhartoufi, N., Audollent, S., Le Merrer, M., Lachmeijer, A., Sigaudy, S., Buenerd, A., Fernandez, C, Delezoide, A.-L., Gubler, M.-C., Salomon, R., Saad, A., Cordier, M.-P., Vekemans, M., Bouvier, R., Attie-Bitach, T. <strong>BBS10 mutations are common in 'Meckel'-type cystic kidneys.</strong> J. Med. Genet. 47: 848-852, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20805367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20805367</a>] [<a href="https://doi.org/10.1136/jmg.2010.079392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20805367">Putoux et al. (2010)</a> identified compound heterozygosity for a 2-bp deletion (1044delTT) in exon 2 of the BBS10 gene, resulting in a frameshift and premature termination, and another pathogenic mutation in the BBS10 gene: 271dupT (<a href="#0001">610148.0001</a>) and a 273C-G transversion in exon 2, resulting in a cys91-to-trp (C91W; <a href="#0007">610148.0007</a>) substitution, respectively. The fetuses were identified at 26 and 21 weeks' gestation, respectively, on the basis of ultrasonographic findings of severe cystic kidney disease and polydactyly. One of the fetuses was found to have situs ambiguus, a less common clinical finding in BBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20805367" 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 class="mim-font">
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<strong>.0007 BARDET-BIEDL SYNDROME 10</strong>
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BBS10, CYS91TRP
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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> rs148374859 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs148374859;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/rs148374859?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=rs148374859" 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=rs148374859" 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=RCV000023803 OR RCV000225785 OR RCV000732709 OR RCV003228900 OR RCV004814923" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023803, RCV000225785, RCV000732709, RCV003228900, RCV004814923" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023803...</a>
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<span class="mim-text-font">
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<p>For discussion of the cys91-to-trp (C91W) mutation in the BBS10 gene that was found in compound heterozygous state in a fetus diagnosed with Bardet-Biedl syndrome (BBS10; <a href="/entry/615987">615987</a>) by <a href="#4" class="mim-tip-reference" title="Putoux, A., Mougou-Zerelli, S., Thomas, S., Elkhartoufi, N., Audollent, S., Le Merrer, M., Lachmeijer, A., Sigaudy, S., Buenerd, A., Fernandez, C, Delezoide, A.-L., Gubler, M.-C., Salomon, R., Saad, A., Cordier, M.-P., Vekemans, M., Bouvier, R., Attie-Bitach, T. <strong>BBS10 mutations are common in 'Meckel'-type cystic kidneys.</strong> J. Med. Genet. 47: 848-852, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20805367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20805367</a>] [<a href="https://doi.org/10.1136/jmg.2010.079392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20805367">Putoux et al. (2010)</a>, see <a href="#0006">610148.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20805367" 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="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Billingsley2010" class="mim-anchor"></a>
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Billingsley, G., Bin, J., Fieggen, K. J., Duncan, J. L., Gerth, C., Ogata, K., Wodak, S. S., Traboulsi, E. I., Fishman, G. A., Paterson, A., Chitayat, D., Knueppel, T., Millan, J. M., Mitchell, G. A., Deveault, C., Heon, E.
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<strong>Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.</strong>
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J. Med. Genet. 47: 453-463, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20472660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20472660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20472660" 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.2009.073205" target="_blank">Full Text</a>]
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Laurier, V., Stoetzel, C., Muller, J., Thibault, C., Corbani, S., Jalkh, N., Salem, N., Chouery, E., Poch, O., Licaire, S., Danse, J.-M., Amati-Bonneau, P., Bonneau, D., Megarbane, A., Mandel, J.-L., Dollfus, H.
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<strong>Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.</strong>
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Europ. J. Hum. Genet. 14: 1195-1203, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16823392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16823392</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16823392" 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/sj.ejhg.5201688" target="_blank">Full Text</a>]
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<a id="Marion2009" class="mim-anchor"></a>
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Marion, V., Stoetzel, C., Schlicht, D., Messaddeq, N., Koch, M., Flori, E., Danse, J. M., Mandel, J.-L., Dollfus, H.
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<strong>Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.</strong>
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Proc. Nat. Acad. Sci. 106: 1820-1825, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19190184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19190184</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19190184[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=19190184" 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/10.1073/pnas.0812518106" target="_blank">Full Text</a>]
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Putoux, A., Mougou-Zerelli, S., Thomas, S., Elkhartoufi, N., Audollent, S., Le Merrer, M., Lachmeijer, A., Sigaudy, S., Buenerd, A., Fernandez, C, Delezoide, A.-L., Gubler, M.-C., Salomon, R., Saad, A., Cordier, M.-P., Vekemans, M., Bouvier, R., Attie-Bitach, T.
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<strong>BBS10 mutations are common in 'Meckel'-type cystic kidneys.</strong>
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J. Med. Genet. 47: 848-852, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20805367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20805367</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20805367" 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.2010.079392" target="_blank">Full Text</a>]
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Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., and 23 others.
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<strong>BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.</strong>
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Nature Genet. 38: 521-524, 2006. Note; Erratum: Nature Genet. 38: 727 only, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582908</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16582908" 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/ng1771" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/21/2011
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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 : 1/15/2010<br>Cassandra L. Kniffin - updated : 3/3/2009<br>Victor A. McKusick - updated : 1/2/2007
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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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<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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Victor A. McKusick : 5/25/2006
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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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<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 : 08/05/2021
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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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carol : 04/03/2018<br>alopez : 07/22/2015<br>mcolton : 7/21/2015<br>alopez : 10/23/2014<br>alopez : 10/23/2014<br>ckniffin : 10/21/2014<br>alopez : 10/16/2014<br>carol : 9/24/2013<br>terry : 11/15/2012<br>wwang : 3/1/2011<br>ckniffin : 2/21/2011<br>mgross : 1/20/2010<br>terry : 1/15/2010<br>wwang : 3/5/2009<br>ckniffin : 3/3/2009<br>terry : 1/2/2007<br>alopez : 6/1/2006<br>alopez : 5/25/2006
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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 class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 610148
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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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BBS10 GENE; BBS10
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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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CHROMOSOME 12 OPEN READING FRAME 58; C12ORF58<br />
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FLJ23560
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: BBS10</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 12q21.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:76,344,474-76,348,415 </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="1">
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<span class="mim-font">
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12q21.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Bardet-Biedl syndrome 10
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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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615987
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Stoetzel et al. (2006) identified the C12ORF58 gene in a genomewide scan for novel Bardet-Biedl syndrome (BBS; 209900) genes. The C12ORF58 gene encodes a 723-amino acid protein that defines a novel chaperonin subfamily. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The C12ORF58 gene is composed of 2 exons (Stoetzel et al., 2006). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The C12ORF58 gene maps to chromosome 12q (Stoetzel et al., 2006). </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>Marion et al. (2009) found that human preadipocytes transiently formed a primary cilium that carried Wnt (see WNT1; 164820) and hedgehog (see SHH; 600725) receptors during preadipocyte differentiation. Immunohistochemical showed that both BBS10 and BBS12 (610683) localized to the basal body of this primary cilium, and both proteins maintained this localization in unciliated fat cells. Knockdown of BBS10 and BBS12 expression by RNA interference reduced the number of ciliated cells and increased the amount of unphosphorylated active GSK3 (see GSK3A; 606784), a key regulator of adipogenesis that is repressed by Wnt signaling. Furthermore, differentiation of BBS10 and BBS12 patient fibroblasts into fat-accumulating cells was associated with increased triglyceride content compared with control cells. Marion et al. (2009) concluded that a primary dysfunction of adipogenesis results in the development of obesity in BBS. </p><p>In a population-based study including 93 BBS patients from 74 families of various ethnicities, Billingsley et al. (2010) determined that the chaperonin-like BBS6 (604896), BBS10, and BBS12 genes are a major contributor to the disorder. Biallelic mutations in these 3 genes were found in 36.5% of the families: 4 patients had mutations in BBS6, 19 had mutations in BBS10, and 10 had mutations in BBS12. Overall, 26 (68%) of 38 mutations were novel. Six patients had mutations present in more than 1 chaperonin-like BBS gene, and 1 patient with a very severe phenotype had 4 mutations in BBS10. The phenotypes observed were beyond the classic BBS phenotype and overlapped with characteristics of MKKS (236700), including congenital heart defect, vaginal atresia, hydrometrocolpos, and cryptorchidism, and with Alstrom syndrome (203800), including diabetes, hearing loss, liver abnormalities, endocrine anomalies, and cardiomyopathy. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>In affected members of a large, consanguineous kindred of Lebanese origin with Bardet-Biedl syndrome-10 (BBS10; 615987), Stoetzel et al. (2006) identified a homozygous missense mutation in the C12ORF58 gene (S311A; 610148.0004). The mutation, which was found by linkage analysis followed by candidate gene sequencing, was not present in 107 Lebanese or 50 European control individuals. Analysis of this gene in a few multiplex or consanguineous families in which linkage analysis was compatible with a chromosome 12 locus uncovered several truncating mutations (see, e.g., 610148.0001), indicating that C12ORF58 indeed represented a new BBS locus, BBS10. Stoetzel et al. (2006) found C12ORF58 to be mutated in about 20% of an unselected cohort of families of various ethnic origins, including some families with mutations in other BBS genes, consistent with oligogenic inheritance. In zebrafish, mild suppression of bbs10 exacerbated the phenotypes of other bbs morphants. </p><p>Putoux et al. (2010) identified homozygous or compound heterozygous C12ORF58 mutations in 5 of 21 patients with antenatal onset of severe renal cystic anomalies and polydactyly, without the biliary or hepatic abnormalities characteristic of Meckel syndrome (MKS; 249000); the phenotype was thus consistent with BBS. Four of the patients were fetuses between ages 21 and 26 weeks' gestation, and the fifth was a 20-year-old woman with BBS who was found to have hyperechogenic kidneys and polydactyly on antenatal ultrasound. The most common mutation was a 1-bp duplication (271dupT; 610148.0001), found on 6 of 10 mutant C12ORF58 alleles. Putoux et al. (2010) noted that the diagnosis of severe lethal BBS is suggested in utero by the findings of severe cystic kidneys and polydactyly without biliary dysgenesis or brain anomalies, and concluded that mutations in the C12ORF58 gene may account for a high percentage of such cases. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Stoetzel et al. (2006) modeled loss of function of the BBS10 gene in zebrafish. Suppression of the maternal bbs10 message caused shortening of the rostrocaudal body axis; dorsal thinning, broadening, and kinking of the notochord; elongation of the somites; and decreased somitic definition and symmetry. Mild suppression of bbs10 exacerbated the phenotypes of other bbs morphants. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 BARDET-BIEDL SYNDROME 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
BARDET-BIEDL SYNDROME 6/10, DIGENIC, INCLUDED
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS10, 1-BP DUP, 271T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs549625604,
|
|
|
|
|
|
gnomAD: rs549625604,
|
|
|
|
|
|
ClinVar: RCV000001391, RCV000144680, RCV000168127, RCV000487323, RCV000504690, RCV000623309, RCV000709625, RCV001074512, RCV003407252
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|
</span>
|
|
</div>
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>The most common mutation in the BBS10 gene found by Stoetzel et al. (2006) among families with Bardet-Biedl syndrome (BBS10; 615987) was a 1-bp insertion (271dupT) in residue 91 leading to premature termination 4 codons later (Cys91fsTer95). The 271dupT mutation accounted for 46% of BBS10 mutant alleles. Although this allele was most frequent in Europeans, reminiscent of the prevalence of the M390R mutation (209901.0001) in Europeans in BBS1, Stoetzel et al. (2006) also found it in families of Turkish and Afghan origin, suggesting that it may represent either an ancient allele or a site of recurrent mutations. A SNP-based haplotype analysis showed the former to be the likely case, since a common haplotype on the 271dupT-bearing chromosome extending at least 175 kb distally in all ethnic groups in the cohort was found. </p><p>Putoux et al. (2010) identified the 271dupT mutation in exon 2 of the BBS10 gene in 4 unrelated fetuses and a patient who presented antenatally with cystic renal anomalies and polydactyly. One fetus was homozygous, and 3 were compound heterozygous with another pathogenic BBS10 mutation (see, e.g., 610148.0006 and 610148.0007); the fifth patient, a 20-year-old woman with BBS, was homozygous for 271dupT and also carried a truncating mutation in the BBS6 gene (604896). </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>
|
|
<span class="mim-font">
|
|
<strong>.0002 BARDET-BIEDL SYNDROME 10</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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BBS10, ARG34PRO
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|
<br />
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|
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SNP: rs137852836,
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ClinVar: RCV000001392
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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>Of 16 different missense mutations of the BBS10 gene detected by Stoetzel et al. (2006) in families with Bardet-Biedl syndrome (BBS10; 615987), arg34-to-pro (R24P) was the one closest to the N terminus. </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>.0003 BARDET-BIEDL SYNDROME 1/10, DIGENIC</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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BBS10, SER303 FS
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<br />
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SNP: rs780059308,
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gnomAD: rs780059308,
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ClinVar: RCV000497796, RCV000811417, RCV000984153, RCV002508143, RCV003403151
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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 family with Bardet-Biedl syndrome (BBS10; 615987), Stoetzel et al. (2006) detected a single BBS10 mutation, Ser303fsTer305, in association with 2 bona fide BBS1 mutations, M390R (209901.0001) and E549X (209901.0002). </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">
|
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<strong>.0004 BARDET-BIEDL SYNDROME 10</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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BBS10, SER311ALA
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<br />
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SNP: rs137852837,
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ClinVar: RCV000001394, RCV001093324, RCV001328242, RCV004814790
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</span>
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</div>
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<p>In the large consanguineous Lebanese family in which Bardet-Biedl syndrome (BBS10; 615987) showing linkage to chromosome 12q was identified, Stoetzel et al. (2006) detected a homozygous ser311-to-ala (S311A) amino acid change in the BBS10 gene as the cause of the disorder. </p><p>In the only affected individual from a sibship within a large consanguineous Lebanese kindred with Bardet-Biedl syndrome reported by Stoetzel et al. (2006), Laurier et al. (2006) found compound heterozygosity for the S311A mutation and a val11-to-gly (V11G) mutation (610148.0005) in the BBS10 gene. Affected individuals from 3 other sibships in this kindred were homozygous for the S311A mutation. Laurier et al. (2006) commented on the unusual finding of homozygosity and compound heterozygosity for mutations in the same gene within a single large consanguineous kindred. </p>
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<span class="mim-font">
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<strong>.0005 BARDET-BIEDL SYNDROME 10</strong>
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</h4>
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<span class="mim-text-font">
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BBS10, VAL11GLY
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<br />
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SNP: rs137852838,
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ClinVar: RCV000001395
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<p>For discussion of the val11-to-gly (V11G) mutation in the BBS10 gene that was found in compound heterozygous state in a patient with Bardet-Biedl syndrome (BBS10; 615987) by Laurier et al. (2006), see 610148.0004. </p>
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<h4>
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<span class="mim-font">
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<strong>.0006 BARDET-BIEDL SYNDROME 10</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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BBS10, 2-BP DEL, 1044TT
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<br />
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SNP: rs587777837,
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ClinVar: RCV000023802, RCV000735922
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<p>In 2 fetuses diagnosed with Bardet-Biedl syndrome (BBS10; 615987), Putoux et al. (2010) identified compound heterozygosity for a 2-bp deletion (1044delTT) in exon 2 of the BBS10 gene, resulting in a frameshift and premature termination, and another pathogenic mutation in the BBS10 gene: 271dupT (610148.0001) and a 273C-G transversion in exon 2, resulting in a cys91-to-trp (C91W; 610148.0007) substitution, respectively. The fetuses were identified at 26 and 21 weeks' gestation, respectively, on the basis of ultrasonographic findings of severe cystic kidney disease and polydactyly. One of the fetuses was found to have situs ambiguus, a less common clinical finding in BBS. </p>
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<span class="mim-font">
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<strong>.0007 BARDET-BIEDL SYNDROME 10</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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BBS10, CYS91TRP
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<br />
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SNP: rs148374859,
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gnomAD: rs148374859,
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ClinVar: RCV000023803, RCV000225785, RCV000732709, RCV003228900, RCV004814923
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</span>
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<span class="mim-text-font">
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<p>For discussion of the cys91-to-trp (C91W) mutation in the BBS10 gene that was found in compound heterozygous state in a fetus diagnosed with Bardet-Biedl syndrome (BBS10; 615987) by Putoux et al. (2010), see 610148.0006. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Billingsley, G., Bin, J., Fieggen, K. J., Duncan, J. L., Gerth, C., Ogata, K., Wodak, S. S., Traboulsi, E. I., Fishman, G. A., Paterson, A., Chitayat, D., Knueppel, T., Millan, J. M., Mitchell, G. A., Deveault, C., Heon, E.
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<strong>Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.</strong>
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J. Med. Genet. 47: 453-463, 2010.
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[PubMed: 20472660]
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[Full Text: https://doi.org/10.1136/jmg.2009.073205]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Laurier, V., Stoetzel, C., Muller, J., Thibault, C., Corbani, S., Jalkh, N., Salem, N., Chouery, E., Poch, O., Licaire, S., Danse, J.-M., Amati-Bonneau, P., Bonneau, D., Megarbane, A., Mandel, J.-L., Dollfus, H.
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<strong>Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.</strong>
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Europ. J. Hum. Genet. 14: 1195-1203, 2006.
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[PubMed: 16823392]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201688]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Marion, V., Stoetzel, C., Schlicht, D., Messaddeq, N., Koch, M., Flori, E., Danse, J. M., Mandel, J.-L., Dollfus, H.
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<strong>Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.</strong>
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Proc. Nat. Acad. Sci. 106: 1820-1825, 2009.
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[PubMed: 19190184]
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[Full Text: https://doi.org/10.1073/pnas.0812518106]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Putoux, A., Mougou-Zerelli, S., Thomas, S., Elkhartoufi, N., Audollent, S., Le Merrer, M., Lachmeijer, A., Sigaudy, S., Buenerd, A., Fernandez, C, Delezoide, A.-L., Gubler, M.-C., Salomon, R., Saad, A., Cordier, M.-P., Vekemans, M., Bouvier, R., Attie-Bitach, T.
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<strong>BBS10 mutations are common in 'Meckel'-type cystic kidneys.</strong>
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J. Med. Genet. 47: 848-852, 2010.
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[PubMed: 20805367]
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[Full Text: https://doi.org/10.1136/jmg.2010.079392]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., and 23 others.
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<strong>BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.</strong>
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Nature Genet. 38: 521-524, 2006. Note; Erratum: Nature Genet. 38: 727 only, 2006.
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[PubMed: 16582908]
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[Full Text: https://doi.org/10.1038/ng1771]
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</p>
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</li>
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</ol>
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<div>
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<br />
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/21/2011<br>Patricia A. Hartz - updated : 1/15/2010<br>Cassandra L. Kniffin - updated : 3/3/2009<br>Victor A. McKusick - updated : 1/2/2007
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Victor A. McKusick : 5/25/2006
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