5149 lines
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Entry
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- *606151 - BBS2 GENE; BBS2
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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">*606151</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/606151">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000125124;t=ENST00000245157" 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=583" 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=606151" 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 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=ENSG00000125124;t=ENST00000245157" 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_001377456,NM_031885,NR_165293,NR_165294,NR_165295,NR_165296,NR_165297,XM_047434412" 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_031885" 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=606151" 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=05855&isoform_id=05855_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/BBS2" 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/13507379,14042451,15559555,52545867,62087390,119603269,119603270,158260231,1796340114,1796386922,2203400200,2217306846,2462550042" 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/Q9BXC9" 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=583" 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=ENSG00000125124;t=ENST00000245157" 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=BBS2" 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=BBS2" 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+583" 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/BBS2" 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:583" 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/583" 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=chr16&hgg_gene=ENST00000245157.11&hgg_start=56470403&hgg_end=56520024&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:967" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606151[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 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=606151[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/BBS2/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/ENSG00000125124" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=BBS2" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=BBS2" 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=BBS2" 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="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://www.euro-wabb.org/en/lovd-genetic-variation-database" title="EURO-WABB Open Variation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">EURO-WABB Open Variation D…</a></div><div style="margin-left: 0.5em;"><a href="http://www.retina-international.org/files/sci-news/bbs2mut.htm" title="Mutations of the Bardet-Biedl Syndrome Type 2 Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Mutations of the Bardet-Bi…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=BBS2&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/PA25276" 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:967" 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:2135267" 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/BBS2#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:2135267" 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/583/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002484/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=583" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00000242;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-020801-1" 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=BBS2&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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606151
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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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BBS2 GENE; BBS2
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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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<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=BBS2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">BBS2</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/16/454?start=-3&limit=10&highlight=454">16q13</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:56470403-56520024&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'})">16:56,470,403-56,520,024</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
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<a href="/clinicalSynopsis/table?mimNumber=615981,616562" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
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View Clinical Synopses
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</a>
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</span>
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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<a href="/geneMap/16/454?start=-3&limit=10&highlight=454">
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16q13
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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">
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Bardet-Biedl syndrome 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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<a href="/entry/615981"> 615981 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
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Retinitis pigmentosa 74
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616562"> 616562 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</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">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<p>BBS2 is 1 of 7 BBS proteins that form the stable core of a protein complex required for ciliogenesis (<a href="#10" class="mim-tip-reference" title="Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peranen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., Jackson, P. K. <strong>A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.</strong> Cell 129: 1201-1213, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17574030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17574030</a>] [<a href="https://doi.org/10.1016/j.cell.2007.03.053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17574030">Nachury et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17574030" 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="#12" class="mim-tip-reference" title="Nishimura, D. Y., Searby, C. C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A. B., Lam, B. L., Powell, B. R., Swiderski, R. E., Bugge, K. E., Haider, N. B., Kwitek-Black, A. E., Ying, L., Duhl, D. M., Gorman, S. W., Heon, E., Iannaccone, A., Bonneau, D., Biesecker, L. G., Jacobson, S. G., Stone, E. M., Sheffield, V. C. <strong>Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).</strong> Hum. Molec. Genet. 10: 865-874, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11285252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11285252</a>] [<a href="https://doi.org/10.1093/hmg/10.8.865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11285252">Nishimura et al. (2001)</a> used physical mapping and sequence analysis to identify a novel BBS gene (designated BBS2) on chromosome 16q21. The BBS2 locus had been initially mapped to an 18-cM interval in a large inbred Bedouin kindred (<a href="#7" class="mim-tip-reference" title="Kwitek-Black, A. E., Carmi, R., Duyk, G. M., Buetow, K. H., Elbedour, K., Parvari, R., Yandava, C. N., Stone, E. M., Sheffield, V. C. <strong>Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.</strong> Nature Genet. 5: 392-396, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298649</a>] [<a href="https://doi.org/10.1038/ng1293-392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298649">Kwitek-Black et al., 1993</a>); further analysis refined this locus to a 2-cM region distal to marker D16S408. The BBS2 open reading frame of 2163 bp encodes 721 amino acids. The gene is evolutionarily conserved and displays a wide pattern of tissue expression, including brain, kidney, adrenal gland, and thyroid gland. Mutations in the gene were identified in 3 of 18 unrelated BBS families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8298649+11285252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using microarray analysis, <a href="#16" class="mim-tip-reference" title="Shah, A. S., Farmen, S. L., Moninger, T. O., Businga, T. R., Andrews, M. P., Bugge, K., Searby, C. C., Nishimura, D., Brogden, K. A., Kline, J. N., Sheffield, V. C., Welsh, M. J. <strong>Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.</strong> Proc. Nat. Acad. Sci. 105: 3380-3385, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18299575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18299575</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18299575[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.0712327105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18299575">Shah et al. (2008)</a> showed that human airway epithelia expressed all 12 BBS genes. Immunohistochemical analysis localized BBS2 and BBS4 (<a href="/entry/600374">600374</a>) to cellular structures associated with motile cilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18299575" 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="#12" class="mim-tip-reference" title="Nishimura, D. Y., Searby, C. C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A. B., Lam, B. L., Powell, B. R., Swiderski, R. E., Bugge, K. E., Haider, N. B., Kwitek-Black, A. E., Ying, L., Duhl, D. M., Gorman, S. W., Heon, E., Iannaccone, A., Bonneau, D., Biesecker, L. G., Jacobson, S. G., Stone, E. M., Sheffield, V. C. <strong>Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).</strong> Hum. Molec. Genet. 10: 865-874, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11285252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11285252</a>] [<a href="https://doi.org/10.1093/hmg/10.8.865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11285252">Nishimura et al. (2001)</a> found that the BBS2 gene contains 17 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11285252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By physical mapping and sequence analysis, <a href="#12" class="mim-tip-reference" title="Nishimura, D. Y., Searby, C. C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A. B., Lam, B. L., Powell, B. R., Swiderski, R. E., Bugge, K. E., Haider, N. B., Kwitek-Black, A. E., Ying, L., Duhl, D. M., Gorman, S. W., Heon, E., Iannaccone, A., Bonneau, D., Biesecker, L. G., Jacobson, S. G., Stone, E. M., Sheffield, V. C. <strong>Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).</strong> Hum. Molec. Genet. 10: 865-874, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11285252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11285252</a>] [<a href="https://doi.org/10.1093/hmg/10.8.865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11285252">Nishimura et al. (2001)</a> mapped the BBS2 gene to chromosome 16q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11285252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 9/21/2015."None>Gross (2015)</a> mapped the BBS2 gene to chromosome 16q13 based on an alignment of the BBS2 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF342736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF342736</a>) with the genomic sequence (GRCh38).</p>
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<p><a href="#10" class="mim-tip-reference" title="Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peranen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., Jackson, P. K. <strong>A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.</strong> Cell 129: 1201-1213, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17574030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17574030</a>] [<a href="https://doi.org/10.1016/j.cell.2007.03.053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17574030">Nachury et al. (2007)</a> found that BBS1 (<a href="/entry/209901">209901</a>), BBS2, BBS4 (<a href="/entry/600374">600374</a>), BBS5 (<a href="/entry/603650">603650</a>), BBS7 (<a href="/entry/607590">607590</a>), BBS8 (TTC8; <a href="/entry/608132">608132</a>), and BBS9 (<a href="/entry/607968">607968</a>) copurified in stoichiometric amounts from human retinal pigment epithelium (RPE) cells and from mouse testis. PCM1 (<a href="/entry/600299">600299</a>) and alpha-tubulin (see <a href="/entry/602529">602529</a>)/beta-tubulin (<a href="/entry/191130">191130</a>) copurified in substoichiometric amounts. The apparent molecular mass of the complex, which <a href="#10" class="mim-tip-reference" title="Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peranen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., Jackson, P. K. <strong>A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.</strong> Cell 129: 1201-1213, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17574030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17574030</a>] [<a href="https://doi.org/10.1016/j.cell.2007.03.053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17574030">Nachury et al. (2007)</a> called the BBSome, was 438 kD, and it had a sedimentation coefficient of 14S. The complex localized with PCM1 to nonmembranous centriolar satellites in the cytoplasm and, in the absence of PCM1, to the ciliary membrane. Cotransfection and immunoprecipitation experiments suggested that BBS9 was the complex-organizing subunit and that BBS5 mediated binding to phospholipids, predominantly phosphatidylinositol 3-phosphate. BBS1 mediated interaction with RABIN8 (RAB3IP; <a href="/entry/608686">608686</a>), the guanine nucleotide exchange factor for the small G protein RAB8 (RAB8A; <a href="/entry/165040">165040</a>). <a href="#10" class="mim-tip-reference" title="Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peranen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., Jackson, P. K. <strong>A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.</strong> Cell 129: 1201-1213, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17574030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17574030</a>] [<a href="https://doi.org/10.1016/j.cell.2007.03.053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17574030">Nachury et al. (2007)</a> found that RAB8 promoted ciliary membrane growth through fusion of exocytic vesicles to the base of the ciliary membrane. They concluded that BBS proteins likely function in membrane trafficking to the primary cilium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17574030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Loktev, A. V., Zhang, Q., Beck, J. S., Searby, C. C., Scheetz, T. E., Bazan, J. F., Slusarski, D. C., Sheffield, V. C., Jackson, P. K., Nachury, M. V. <strong>A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.</strong> Dev. Cell 15: 854-865, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19081074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19081074</a>] [<a href="https://doi.org/10.1016/j.devcel.2008.11.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19081074">Loktev et al. (2008)</a> found that BBIP10 (<a href="/entry/613605">613605</a>) copurified and cosedimented with the BBS protein complex from RPE cells. Knockdown of BBIP10 in RPE cells via small interfering RNA compromised assembly of the BBS protein complex and caused failure of ciliogenesis. Knockdown of BBS1, BBS5, or PCM1 resulted in a similar failure of ciliogenesis in RPE cells. Depletion of BBIP10 or BBS8 increased the frequency of centrosome splitting in interphase cells. BBIP10 also had roles in cytoplasmic microtubule stabilization and acetylation that appeared to be independent of its role in assembly of the BBS protein complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19081074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a protein pull-down assay with homogenized bovine retina, <a href="#5" class="mim-tip-reference" title="Jin, H., White, S. R., Shida, T., Schulz, S., Aguiar, M., Gygi, S. P., Bazan, J. F., Nachury, M. V. <strong>The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.</strong> Cell 141: 1208-1219, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20603001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20603001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20603001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.05.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20603001">Jin et al. (2010)</a> showed that ARL6 (<a href="/entry/608845">608845</a>) bound the BBS protein complex. Depletion of ARL6 in human RPE cells did not affect assembly of the complex, but it blocked its localization to cilia. Targeting of ARL6 and the protein complex to cilia required GTP binding by ARL6, but not ARL6 GTPase activity. When in the GTP-bound form, the N-terminal amphipathic helix of ARL6 bound brain lipid liposomes and recruited the BBS protein complex. Upon recruitment, the complex appeared to polymerize into an electron-dense planar coat, and it functioned in lateral transport of test cargo proteins to ciliary membranes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20603001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By mass spectrometric analysis of transgenic mouse testis, <a href="#15" class="mim-tip-reference" title="Seo, S., Zhang, Q., Bugge, K., Breslow, D. K., Searby, C. C., Nachury, M. V., Sheffield, V. C. <strong>A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.</strong> PLoS Genet. 7: e1002358, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22072986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22072986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22072986[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/10.1371/journal.pgen.1002358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22072986">Seo et al. (2011)</a> found that Lxtfl1 (<a href="/entry/606568">606568</a>) copurified with human BBS4 and with the core mouse BBS complex subunits Bbs1, Bbs2, Bbs5, Bbs7, Bbs8, and Bbs9. Immunohistochemical analysis of human RPE cells showed colocalization of LXTFL1 and BBS9 in cytoplasmic punctae. Use of small interfering RNA revealed distinct functions for each BBS subunit in BBS complex assembly and trafficking. LZTFL1 depletion and overexpression studies showed a negative role for LZTFL1 in BBS complex trafficking, but no effect of LZTFL1 on BBS complex assembly. Mutation analysis revealed that the C-terminal half of Lztfl1 interacted with the C-terminal domain of Bbs9 and that the N-terminal half of Lztfl1 negatively regulated BBS complex trafficking. Depletion of several BBS subunits and LZTFL1 also altered Hedgehog (SHH; <a href="/entry/600725">600725</a>) signaling, as measured by GLI1 (<a href="/entry/165220">165220</a>) expression and ciliary trafficking of SMO (SMOH; <a href="/entry/601500">601500</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22072986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using computational analysis, <a href="#5" class="mim-tip-reference" title="Jin, H., White, S. R., Shida, T., Schulz, S., Aguiar, M., Gygi, S. P., Bazan, J. F., Nachury, M. V. <strong>The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.</strong> Cell 141: 1208-1219, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20603001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20603001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20603001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.05.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20603001">Jin et al. (2010)</a> found that the BBS protein complex shares structural features with the canonical coat complexes COPI (<a href="/entry/601924">601924</a>), COPII (see <a href="/entry/610511">610511</a>), and clathrin AP1 (see <a href="/entry/603531">603531</a>). BBS4 and BBS8 consist almost entirely of tetratricopeptide repeats (TPRs) (13 and 12.5 TPRs, respectively), which are predicted to fold into extended rod-shaped alpha solenoids. BBS1, BBS2, BBS7, and BBS9 each have an N-terminal beta-propeller fold followed by an amphipathic helical linker and a gamma-adaptin (AP1G1; <a href="/entry/603533">603533</a>) ear motif. In BBS2, BBS7, and BBS9, the ear motif is followed by an alpha/beta platform domain and an alpha helix. In BBS1, a 4-helix bundle is inserted between the second and third blades of the beta propeller. BBS5 contains 2 pleckstrin (PLEK; <a href="/entry/173570">173570</a>) homology domains and a 3-helix bundle, while BBIP10 consists of 2 alpha helices. <a href="#5" class="mim-tip-reference" title="Jin, H., White, S. R., Shida, T., Schulz, S., Aguiar, M., Gygi, S. P., Bazan, J. F., Nachury, M. V. <strong>The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.</strong> Cell 141: 1208-1219, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20603001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20603001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20603001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2010.05.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20603001">Jin et al. (2010)</a> concluded that the abundance of beta propellers, alpha solenoids, and appendage domains inside the BBS protein complex suggests that it shares an evolutionary relationship with canonical coat complexes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20603001" 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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By mutation screening of the BBS2 gene, <a href="#12" class="mim-tip-reference" title="Nishimura, D. Y., Searby, C. C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A. B., Lam, B. L., Powell, B. R., Swiderski, R. E., Bugge, K. E., Haider, N. B., Kwitek-Black, A. E., Ying, L., Duhl, D. M., Gorman, S. W., Heon, E., Iannaccone, A., Bonneau, D., Biesecker, L. G., Jacobson, S. G., Stone, E. M., Sheffield, V. C. <strong>Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).</strong> Hum. Molec. Genet. 10: 865-874, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11285252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11285252</a>] [<a href="https://doi.org/10.1093/hmg/10.8.865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11285252">Nishimura et al. (2001)</a> revealed a homozygous 1-bp deletion in exon 8 (<a href="#0001">606151.0001</a>) in a family with BBS (BBS2; <a href="/entry/615981">615981</a>), predicting a protein product that is truncated 10 amino acids downstream of the deletion at codon 324. Two sequence variants were found on the affected chromosome in the other family. A T-to-G transversion at nucleotide 224, predicting a val75-to-gly substitution (<a href="#0002">606151.0002</a>) in exon 2, was postulated to be the disease-causing mutation in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11285252" 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 several families with Bardet-Biedl syndrome, <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> identified numerous novel nonsense, frameshift, and missense mutations in the BBS2 gene in homozygosity and compound heterozygosity. Interestingly, 40% of these patients also had a third mutation in another BBS gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11567139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Retinitis Pigmentosa 74</em></strong></p><p>
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In a Moroccan Jewish family in which 3 sibs with nonsyndromic retinitis pigmentosa (RP74; <a href="/entry/616562">616562</a>) were found to be negative for mutations in previously reported RP-associated genes, <a href="#17" class="mim-tip-reference" title="Shevach, E., Ali, M., Mizrahi-Meissonnier, L., McKibbin, M., El-Asrag, M., Watson, C. M., Inglehearn, C. F., Ben-Yosef, T., Blumenfeld, A., Jalas, C., Banin, E., Sharon, D. <strong>Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.</strong> JAMA Ophthal. 133: 312-318, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25541840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25541840</a>] [<a href="https://doi.org/10.1001/jamaophthalmol.2014.5251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25541840">Shevach et al. (2015)</a> performed exome sequencing of the BBS2 gene and identified compound heterozygous missense mutations (A33D, <a href="#0019">606151.0019</a> and P134R, <a href="#0020">606151.0020</a>) that segregated with the disorder. In further studies of 4 Ashkenazi Jewish families, <a href="#17" class="mim-tip-reference" title="Shevach, E., Ali, M., Mizrahi-Meissonnier, L., McKibbin, M., El-Asrag, M., Watson, C. M., Inglehearn, C. F., Ben-Yosef, T., Blumenfeld, A., Jalas, C., Banin, E., Sharon, D. <strong>Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.</strong> JAMA Ophthal. 133: 312-318, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25541840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25541840</a>] [<a href="https://doi.org/10.1001/jamaophthalmol.2014.5251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25541840">Shevach et al. (2015)</a> identified additional homozygous and compound heterozygous mutations in the BBS2 gene (see, e.g., <a href="#0009">606151.0009</a>-<a href="#0010">606151.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25541840" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Nishimura, D. Y., Fath, M., Mullins, R. F., Searby, C., Andrews, M., Davis, R., Andorf, J. L., Mykytyn, K., Swiderski, R. E., Yang, B., Carmi, R., Stone, E. M., Sheffield, V. C. <strong>Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.</strong> Proc. Nat. Acad. Sci. 101: 16588-16593, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15539463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15539463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15539463[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.0405496101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15539463">Nishimura et al. (2004)</a> found that Bbs2 -/- mice were born at less than the expected mendelian ratios. Mutant mice showed major components of the human phenotype, including obesity and retinopathy, and they also showed defective social function. The retinopathy in mutant mice was associated with cilia dysfunction. Other phenotypes in mutant mice associated with cilia dysfunction included renal cysts, male infertility, and a deficit in olfaction. Except for male infertility, these phenotypes were not caused by a complete absence of cilia. Bbs2 retinopathy involved normal retina development, followed by apoptotic death of photoreceptors. Photoreceptor death was preceded by mislocalization of rhodopsin, indicating a defect in protein transport. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15539463" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using mice lacking Bbs2, Bbs4, or Bbs6 (MKKS; <a href="/entry/604896">604896</a>) and mice with the met390-to-arg (M390R; <a href="/entry/209901#0001">209901.0001</a>) mutation in Bbs1 (<a href="/entry/209901">209901</a>), <a href="#16" class="mim-tip-reference" title="Shah, A. S., Farmen, S. L., Moninger, T. O., Businga, T. R., Andrews, M. P., Bugge, K., Searby, C. C., Nishimura, D., Brogden, K. A., Kline, J. N., Sheffield, V. C., Welsh, M. J. <strong>Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.</strong> Proc. Nat. Acad. Sci. 105: 3380-3385, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18299575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18299575</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18299575[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.0712327105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18299575">Shah et al. (2008)</a> showed that expression of BBS proteins was not required for ciliogenesis, but their loss caused structural defects in a fraction of cilia covering airway epithelia. The most common abnormality was bulges filled with vesicles near the tips of cilia, and this same misshapen appearance was present in airway cilia from all mutant mouse strains. Cilia of Bbs4-null and Bbs1 mutant mice beat at a lower frequency than wildtype cilia. Neither airway hyperresponsiveness nor inflammation increased in Bbs2- or Bbs4-null mice immunized with ovalbumin compared with wildtype mice. Instead, mutant animals were partially protected from airway hyperresponsiveness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18299575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Berbari, N. F., Lewis, J. S., Bishop, G. A., Askwith, C. C., Mykytyn, K. <strong>Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia.</strong> Proc. Nat. Acad. Sci. 105: 4242-4246, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18334641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18334641</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18334641[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.0711027105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18334641">Berbari et al. (2008)</a> reported that BBS proteins are required for the localization of G protein-coupled receptors to primary cilia on central mouse neurons. Neurons deficient in Bbs2 or Bbs4 lacked ciliary localization of Sstr3 (<a href="/entry/182453">182453</a>) and Mchr1 (GPR24; <a href="/entry/601751">601751</a>). Because MCHR1 is involved in the regulation of feeding behavior, <a href="#1" class="mim-tip-reference" title="Berbari, N. F., Lewis, J. S., Bishop, G. A., Askwith, C. C., Mykytyn, K. <strong>Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia.</strong> Proc. Nat. Acad. Sci. 105: 4242-4246, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18334641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18334641</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18334641[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.0711027105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18334641">Berbari et al. (2008)</a> concluded that the BBS phenotype is due to altered signaling caused by mislocalization of ciliary signaling proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18334641" 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="#13" class="mim-tip-reference" title="Rahmouni, K., Fath, M. A., Seo, S., Thedens, D. R., Berry, C. J., Weiss, R., Nishimura, D. Y., Sheffield, V. C. <strong>Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.</strong> J. Clin. Invest. 118: 1458-1467, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18317593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18317593</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18317593[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/10.1172/JCI32357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18317593">Rahmouni et al. (2008)</a> studied Bbs2 -/-, Bbs4 -/-, and Bbs6 -/- mice and found that obesity was associated with hyperleptinemia (<a href="/entry/164160">164160</a>) and resistance to the anorectic and weight-reducing effects of leptin. Although all 3 of the BBS mouse models were similarly resistant to the metabolic actions of leptin, only Bbs4 -/- and Bbs6 -/- mice remained responsive to the effects of leptin on renal sympathetic nerve activity and arterial pressure and developed hypertension. The authors also found that BBS mice had decreased hypothalamic expression of proopiomelanocortin (POMC; <a href="/entry/176830">176830</a>), and suggested that BBS genes play an important role in maintaining leptin sensitivity in POMC neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18317593" 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="#14" class="mim-tip-reference" title="Seo, S., Guo, D.-F., Bugge, K., Morgan, D. A., Rahmouni, K., Sheffield, V. C. <strong>Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.</strong> Hum. Molec. Genet. 18: 1323-1331, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19150989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19150989</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19150989[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19150989">Seo et al. (2009)</a> showed that BBS proteins were required for leptin receptor (LEPR; <a href="/entry/601007">601007</a>) signaling in the hypothalamus in mice. Bbs2 -/-, Bbs4 -/-, and Bbs6 -/- mice were resistant to the action of leptin to reduce body weight and food intake regardless of serum leptin (LEP; <a href="/entry/164160">164160</a>) levels and obesity. Activation of hypothalamic Stat3 (<a href="/entry/102582">102582</a>) by leptin was significantly decreased in Bbs2 -/-, Bbs4 -/-, and Bbs6 -/- mice. In contrast, downstream melanocortin receptor (see <a href="/entry/155555">155555</a>) signaling was unaffected, indicating that Lepr signaling was specifically impaired in Bbs2 -/-, Bbs4 -/-, and Bbs6 -/- mice. Impaired Lepr signaling in BBS mice was associated with decreased Pomc (<a href="/entry/176830">176830</a>) gene expression. The human BBS1 protein physically interacted with LEPR, and loss of BBS proteins perturbed LEPR trafficking in human cells. <a href="#14" class="mim-tip-reference" title="Seo, S., Guo, D.-F., Bugge, K., Morgan, D. A., Rahmouni, K., Sheffield, V. C. <strong>Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.</strong> Hum. Molec. Genet. 18: 1323-1331, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19150989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19150989</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19150989[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19150989">Seo et al. (2009)</a> concluded that BBS proteins mediate LEPR trafficking and that impaired LEPR signaling may underlie energy imbalance in BBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19150989" 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 id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>20 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606151[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777824 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777824;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=rs587777824" 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=rs587777824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a family with Bardet-Biedl syndrome (BBS2; <a href="/entry/615981">615981</a>), <a href="#12" class="mim-tip-reference" title="Nishimura, D. Y., Searby, C. C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A. B., Lam, B. L., Powell, B. R., Swiderski, R. E., Bugge, K. E., Haider, N. B., Kwitek-Black, A. E., Ying, L., Duhl, D. M., Gorman, S. W., Heon, E., Iannaccone, A., Bonneau, D., Biesecker, L. G., Jacobson, S. G., Stone, E. M., Sheffield, V. C. <strong>Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).</strong> Hum. Molec. Genet. 10: 865-874, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11285252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11285252</a>] [<a href="https://doi.org/10.1093/hmg/10.8.865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11285252">Nishimura et al. (2001)</a> identified a homozygous 1-bp deletion in exon 8 (940delA) of the BBS2 gene, predicting a truncated protein 10 amino acids downstream from codon 324. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11285252" 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> rs121908174 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908174;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/rs121908174?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=rs121908174" 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=rs121908174" 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=RCV000004831 OR RCV001002877" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004831, RCV001002877" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004831...</a>
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<p>In the large inbred Bedouin BBS (BBS2; <a href="/entry/615981">615981</a>) family described by <a href="#7" class="mim-tip-reference" title="Kwitek-Black, A. E., Carmi, R., Duyk, G. M., Buetow, K. H., Elbedour, K., Parvari, R., Yandava, C. N., Stone, E. M., Sheffield, V. C. <strong>Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.</strong> Nature Genet. 5: 392-396, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298649</a>] [<a href="https://doi.org/10.1038/ng1293-392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298649">Kwitek-Black et al. (1993)</a> (family 1), <a href="#12" class="mim-tip-reference" title="Nishimura, D. Y., Searby, C. C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A. B., Lam, B. L., Powell, B. R., Swiderski, R. E., Bugge, K. E., Haider, N. B., Kwitek-Black, A. E., Ying, L., Duhl, D. M., Gorman, S. W., Heon, E., Iannaccone, A., Bonneau, D., Biesecker, L. G., Jacobson, S. G., Stone, E. M., Sheffield, V. C. <strong>Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).</strong> Hum. Molec. Genet. 10: 865-874, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11285252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11285252</a>] [<a href="https://doi.org/10.1093/hmg/10.8.865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11285252">Nishimura et al. (2001)</a> revealed a T-to-G transversion at position 224 of the BBS2 gene, resulting in a val75-to-gly substitution in exon 2. Two sequence variants were found on the affected chromosome in this family; this sequence variant was postulated to be the disease-causing mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8298649+11285252" 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> rs121908175 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908175;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/rs121908175?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=rs121908175" 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=rs121908175" 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=RCV000004832 OR RCV000412476 OR RCV000589350 OR RCV000762970 OR RCV000787792 OR RCV001074960 OR RCV004732529" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004832, RCV000412476, RCV000589350, RCV000762970, RCV000787792, RCV001074960, RCV004732529" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004832...</a>
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<p><a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> identified homozygosity for a tyrosine-to-termination substitution at codon 24 (Y24X) of the BBS2 gene in 2 unrelated patients with Bardet-Biedl syndrome (BBS2; <a href="/entry/615981">615981</a>). One of those patients carried an additional mutation in the BBS6 gene (ala242-to-ser; see <a href="/entry/604896#0001">604896.0001</a>). The Y24X mutation was also found in compound heterozygosity with the gln59-to-ter mutation (<a href="#0004">606151.0004</a>) in a patient who carried a third mutation in the MKKS gene (Q147X; <a href="/entry/604896#0012">604896.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11567139" 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> rs121908176 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908176;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/rs121908176?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=rs121908176" 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=rs121908176" 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=RCV000004833 OR RCV000587533 OR RCV002490314 OR RCV003441704" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004833, RCV000587533, RCV002490314, RCV003441704" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004833...</a>
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<p>In a BBS2 (<a href="/entry/615981">615981</a>) patient, <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> identified compound heterozygosity for a glutamine-to-termination substitution at codon 59 in the BBS2 gene. This mutation was found with the Y24X mutation (<a href="#0003">606151.0003</a>) and also the gln147-to-ter mutation in MKKS (<a href="/entry/604896#0012">604896.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11567139" 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>.0005 BARDET-BIEDL SYNDROME 2</strong>
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BBS2, ARG275TER
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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> rs121908177 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908177;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/rs121908177?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=rs121908177" 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=rs121908177" 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=RCV000004834 OR RCV000269226 OR RCV000493074 OR RCV000762967 OR RCV001074104 OR RCV002466394 OR RCV004528072" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004834, RCV000269226, RCV000493074, RCV000762967, RCV001074104, RCV002466394, RCV004528072" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004834...</a>
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<p>In a BBS2 (<a href="/entry/615981">615981</a>) patient, <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> identified an arg-to-ter substitution at codon 275 of the BBS2 gene in homozygosity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11567139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<strong>.0006 BARDET-BIEDL SYNDROME 2/4, DIGENIC</strong>
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BBS2, ARG315TRP
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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> rs121908178 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908178;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/rs121908178?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=rs121908178" 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=rs121908178" 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=RCV000004835 OR RCV000675099 OR RCV001226053 OR RCV001257834 OR RCV003887853 OR RCV005016240" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004835, RCV000675099, RCV001226053, RCV001257834, RCV003887853, RCV005016240" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004835...</a>
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<p>In a patient with Bardet-Biedl syndrome (BBS2; <a href="/entry/615981">615981</a>), <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> found homozygosity for an arg-to-trp mutation at codon 315 of the BBS2 gene. This patient was also homozygous by descent for the BBS4 locus (<a href="/entry/600374">600374</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11567139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 BARDET-BIEDL SYNDROME 1/2, DIGENIC</strong>
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</h4>
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BBS2, ASP170FS, TER171
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004836" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004836" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004836</a>
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<p>In a patient with Bardet-Biedl syndrome (BBS2; <a href="/entry/615981">615981</a>), <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> identified homozygosity for a frameshift mutation at codon 170 of the BBS2 gene, resulting in a termination codon at codon 171. In addition to these 2 mutations, the patient was also homozygous by descent for the BBS1 locus (<a href="/entry/209901">209901</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11567139" 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="0008" class="mim-anchor"></a>
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<strong>.0008 BARDET-BIEDL SYNDROME 2</strong>
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BBS2, CYS210FS, TER246
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004837" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004837" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004837</a>
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</span>
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<span class="mim-text-font">
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<p>In a patient with Bardet-Biedl syndrome (BBS2; <a href="/entry/615981">615981</a>), <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> identified homozygosity for a frameshift at codon 210 of the BBS2 gene, resulting in a termination codon at residue 246. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11567139" 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="0009" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0009 BARDET-BIEDL SYNDROME 1/2, DIGENIC</strong>
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</span>
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RETINITIS PIGMENTOSA 74, INCLUDED
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BBS2, ASP104ALA
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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> rs121908179 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908179;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/rs121908179?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=rs121908179" 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=rs121908179" 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=RCV000004839 OR RCV000190985 OR RCV000587645 OR RCV000665304 OR RCV000762969 OR RCV001002876 OR RCV001582466 OR RCV004532290" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004839, RCV000190985, RCV000587645, RCV000665304, RCV000762969, RCV001002876, RCV001582466, RCV004532290" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004839...</a>
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</span>
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<span class="mim-text-font">
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<p><strong><em>Bardet-Biedl Syndrome 2</em></strong></p><p>
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In a patient with Bardet-Biedl syndrome (BBS2; <a href="/entry/615981">615981</a>), <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> identified compound heterozygosity for an aspartic acid-to-alanine substitution at codon 104 (D104A) of the BBS2 gene. The other allele contained an arg-to-pro substitution at codon 634 (later corrected to arg632-to-pro (R632P; <a href="#0010">606151.0010</a>) by <a href="#17" class="mim-tip-reference" title="Shevach, E., Ali, M., Mizrahi-Meissonnier, L., McKibbin, M., El-Asrag, M., Watson, C. M., Inglehearn, C. F., Ben-Yosef, T., Blumenfeld, A., Jalas, C., Banin, E., Sharon, D. <strong>Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.</strong> JAMA Ophthal. 133: 312-318, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25541840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25541840</a>] [<a href="https://doi.org/10.1001/jamaophthalmol.2014.5251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25541840">Shevach et al., 2015</a>). <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> also identified a patient who was linked to the BBS1 locus who carried the D104A mutation in BBS2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11567139+25541840" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Retinitis Pigmentosa 74</em></strong></p><p>
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In 2 brothers in a nonconsanguineous Ashkenazi Jewish family (MOL0970) with nonsyndromic retinitis pigmentosa-74 (RP74; <a href="/entry/616562">616562</a>) who were found to be negative for previously reported RP-associated genes and for other genes associated with BBS, <a href="#17" class="mim-tip-reference" title="Shevach, E., Ali, M., Mizrahi-Meissonnier, L., McKibbin, M., El-Asrag, M., Watson, C. M., Inglehearn, C. F., Ben-Yosef, T., Blumenfeld, A., Jalas, C., Banin, E., Sharon, D. <strong>Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.</strong> JAMA Ophthal. 133: 312-318, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25541840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25541840</a>] [<a href="https://doi.org/10.1001/jamaophthalmol.2014.5251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25541840">Shevach et al. (2015)</a> identified homozygosity for a c.311A-C transversion in the BBS2 gene, resulting in a D104A substitution. In 2 patients with nonsyndromic RP from unrelated nonconsanguineous Ashkenazi Jewish families (MOL0714 and RD158), <a href="#17" class="mim-tip-reference" title="Shevach, E., Ali, M., Mizrahi-Meissonnier, L., McKibbin, M., El-Asrag, M., Watson, C. M., Inglehearn, C. F., Ben-Yosef, T., Blumenfeld, A., Jalas, C., Banin, E., Sharon, D. <strong>Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.</strong> JAMA Ophthal. 133: 312-318, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25541840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25541840</a>] [<a href="https://doi.org/10.1001/jamaophthalmol.2014.5251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25541840">Shevach et al. (2015)</a> identified compound heterozygosity for D104A and R632P (<a href="#0010">606151.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25541840" 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> rs138043021 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs138043021;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/rs138043021?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=rs138043021" 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=rs138043021" 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=RCV000004840 OR RCV000190986 OR RCV000380902 OR RCV000589221 OR RCV001002874 OR RCV001073916 OR RCV001268711 OR RCV002490315 OR RCV002512776" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004840, RCV000190986, RCV000380902, RCV000589221, RCV001002874, RCV001073916, RCV001268711, RCV002490315, RCV002512776" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004840...</a>
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<p><strong><em>Bardet-Biedl Syndrome 2</em></strong></p><p>
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In a patient with Bardet-Biedl syndrome (BBS2; <a href="/entry/615981">615981</a>) but with normal development and no evidence of renal dysplasia, <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> identified compound heterozygosity for mutations in the BBS2 gene: an arg-to-pro substitution at codon 634 (later corrected to codon 632 (R632P) by <a href="#17" class="mim-tip-reference" title="Shevach, E., Ali, M., Mizrahi-Meissonnier, L., McKibbin, M., El-Asrag, M., Watson, C. M., Inglehearn, C. F., Ben-Yosef, T., Blumenfeld, A., Jalas, C., Banin, E., Sharon, D. <strong>Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.</strong> JAMA Ophthal. 133: 312-318, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25541840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25541840</a>] [<a href="https://doi.org/10.1001/jamaophthalmol.2014.5251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25541840">Shevach et al., 2015</a>) and an asp-to-ala substitution at codon 104 (D104A; <a href="#0009">606151.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11567139+25541840" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Retinitis Pigmentosa 74</em></strong></p><p>
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In 2 Ashkenazi Jewish patients with nonsyndromic retinitis pigmentosa-74 (RP74; <a href="/entry/616562">616562</a>) from unrelated nonconsanguineous families (MOL0714 and RD158), <a href="#17" class="mim-tip-reference" title="Shevach, E., Ali, M., Mizrahi-Meissonnier, L., McKibbin, M., El-Asrag, M., Watson, C. M., Inglehearn, C. F., Ben-Yosef, T., Blumenfeld, A., Jalas, C., Banin, E., Sharon, D. <strong>Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.</strong> JAMA Ophthal. 133: 312-318, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25541840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25541840</a>] [<a href="https://doi.org/10.1001/jamaophthalmol.2014.5251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25541840">Shevach et al. (2015)</a> identified the same compound heterozygous mutations in the BBS2 gene that had been identified in a patient with Bardet-Biedl syndrome-2 reported by <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a>: a c.1895G-C transversion (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs138043021;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs138043021</a>), resulting in an R632P substitution, and D104A (<a href="#0009">606151.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25541840+11567139" 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">rs587777825 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777825;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=rs587777825" 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=rs587777825" 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=RCV000004841" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004841" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004841</a>
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<p>In a patient (PB045) with Bardet-Biedl syndrome (see BBS2, <a href="/entry/615981">615981</a>) genetically excluded from the BBS2 locus, <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> nevertheless identified one BBS2 mutation, a G-to-C substitution at the splice acceptor site of intron 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11567139" 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">rs587777826 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777826;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=rs587777826" 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=rs587777826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with Bardet-Biedl syndrome (BBS2; <a href="/entry/615981">615981</a>) linked to the BBS1 locus (<a href="/entry/209901">209901</a>), <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> found a third mutation in BBS2: a frameshift mutation at codon 158, resulting in a premature termination codon at residue 200. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11567139" 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> rs4784677 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4784677;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/rs4784677?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=rs4784677" 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=rs4784677" 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=RCV000004838 OR RCV000860491" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004838, RCV000860491" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004838...</a>
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<p>In a BBS (<a href="/entry/615981">615981</a>) patient homozygous for a missense mutation in the MKKS gene (Y37C; <a href="/entry/604896#0003">604896.0003</a>), <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> identified a third mutation in the BBS2 gene: an asparagine-to-serine substitution at codon 70. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11567139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 BARDET-BIEDL SYNDROME 2/6, DIGENIC</strong>
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BBS2, LEU168FS, TER170
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004843" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004843" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004843</a>
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<p>In a patient with Bardet-Biedl syndrome (BBS2; <a href="/entry/615981">615981</a>), <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> identified compound heterozygosity for 2 termination codons in the BBS2 gene: the first was a frameshift mutation at codon 168, resulting in a termination codon at residue 170. This was in compound heterozygosity with an arg216-to-ter mutation (<a href="#0016">606151.0016</a>). This patient was also found to have a third mutation in the MKKS gene, cys499-to-ser (<a href="/entry/604896#0013">604896.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11567139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0015 BARDET-BIEDL SYNDROME 2/4, DIGENIC</strong>
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BBS2, THR560ILE
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004844" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004844" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004844</a>
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<p>In a patient with Bardet-Biedl syndrome (BBS2; <a href="/entry/615981">615981</a>), <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> found homozygosity for a threonine-to-isoleucine substitution at codon 560 of the BBS2 gene. This patient also was homozygous by descent for the BBS4 locus (<a href="/entry/600374">600374</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11567139" 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="0016" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0016 BARDET-BIEDL SYNDROME 2/6, DIGENIC</strong>
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BBS2, ARG216TER
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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> rs121908180 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908180;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/rs121908180?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=rs121908180" 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=rs121908180" 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=RCV000004845 OR RCV000668482 OR RCV000787791 OR RCV001056084 OR RCV005016241" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004845, RCV000668482, RCV000787791, RCV001056084, RCV005016241" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004845...</a>
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<span class="mim-text-font">
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<p>In a patient with Bardet-Biedl syndrome (BBS2; <a href="/entry/615981">615981</a>), <a href="#6" class="mim-tip-reference" title="Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R. <strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong> Science 293: 2256-2259, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>] [<a href="https://doi.org/10.1126/science.1063525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11567139">Katsanis et al. (2001)</a> identified compound heterozygosity for mutations in the BBS2 gene, a frameshift mutation at codon 168 (<a href="#0014">606151.0014</a>) and an arg-to-ter substitution at codon 216. This patient also carried a third mutation at the MKKS locus (cys499 to ser; <a href="/entry/604896#0013">604896.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11567139" 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="0017" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0017 BARDET-BIEDL SYNDROME 2</strong>
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BBS2, GLY139VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908181 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908181;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=rs121908181" 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=rs121908181" 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=RCV000004846" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004846" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004846</a>
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<p>In 2 affected individuals from a sibship within the large consanguineous Lebanese kindred with Bardet-Biedl syndrome (BBS2; <a href="/entry/615981">615981</a>) reported by <a href="#18" 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="#8" 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> identified a homozygous gly139-to-val (G139V) substitution in the BBS2 gene. Other affected individuals in different sibships of the same kindred were found to have mutations in the BBS10 gene (<a href="/entry/610148#0004">610148.0004</a> and <a href="/entry/610148#0005">610148.0005</a>). There was no evidence for triallelism. The authors commented on the unusual finding of mutations in 2 different genes within a single large consanguineous kindred. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16582908+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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<a id="0018" class="mim-anchor"></a>
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<strong>.0018 BARDET-BIEDL SYNDROME 2</strong>
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BBS2, IVS3AS, G-A, -2 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854887;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs137854887</a>)
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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> rs137854887 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854887;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/rs137854887?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=rs137854887" 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=rs137854887" 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=RCV000023507 OR RCV001852022 OR RCV004532399" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023507, RCV001852022, RCV004532399" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023507...</a>
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<p>In a 19-year-old Hutterite man with Bardet-Biedl syndrome (BBS2; <a href="/entry/615981">615981</a>), <a href="#4" class="mim-tip-reference" title="Innes, A. M., Boycott, K. M., Puffenberger, E. G., Redl, D., MacDonald, I. M., Chudley, A. E., Beaulieu, C., Perrier, R., Gillan, T., Wade, A., Parboosingh, J. S. <strong>A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.</strong> Clin. Genet. 78: 424-431, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20618352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20618352</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01481.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20618352">Innes et al. (2010)</a> identified a homozygous G-to-A transition in intron 3 of the BBS2 gene (472-2A-G), resulting in a splice site mutation. The mutation was identified by genomewide SNP microarray analysis, as microsatellite analysis failed to confirm a candidate region of homozygosity by descent. Two abnormal transcripts were identified from the patient's cDNA: 1 lacking exon 4 and the other lacking exons 3 and 4. Three additional Hutterite patients with BBS were found to share the same haplotype surrounding the mutation, consistent with a founder effect in this population. <a href="#4" class="mim-tip-reference" title="Innes, A. M., Boycott, K. M., Puffenberger, E. G., Redl, D., MacDonald, I. M., Chudley, A. E., Beaulieu, C., Perrier, R., Gillan, T., Wade, A., Parboosingh, J. S. <strong>A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.</strong> Clin. Genet. 78: 424-431, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20618352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20618352</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01481.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20618352">Innes et al. (2010)</a> estimated the age of the mutation to be more than 135 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20618352" 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>Among 1,518 Schmiedeleut (S-leut) Hutterites from the United States, <a href="#2" class="mim-tip-reference" title="Chong, J. X., Ouwenga, R., Anderson, R. L., Waggoner, D. J., Ober, C. <strong>A population-based study of autosomal-recessive disease-causing mutations in a founder population.</strong> Am. J. Hum. Genet. 91: 608-620, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22981120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22981120</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22981120[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.08.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22981120">Chong et al. (2012)</a> found 42 heterozygotes and no homozygotes for the BBS2 IVS3-2A-G mutation, for a frequency of 0.028, or 1 in 36. This is a private mutation in the Hutterite population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22981120" 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>.0019 RETINITIS PIGMENTOSA 74</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs797045155 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797045155;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/rs797045155?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=rs797045155" 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=rs797045155" 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=RCV000190987 OR RCV000675055 OR RCV001002878 OR RCV001380380 OR RCV004539761" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190987, RCV000675055, RCV001002878, RCV001380380, RCV004539761" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190987...</a>
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<p>In a nonconsanguineous Moroccan Jewish family (MOL0369) in which 3 sibs with nonsyndromic retinitis pigmentosa (RP74; <a href="/entry/616562">616562</a>) were found to be negative for mutations in previously reported RP-associated genes, <a href="#17" class="mim-tip-reference" title="Shevach, E., Ali, M., Mizrahi-Meissonnier, L., McKibbin, M., El-Asrag, M., Watson, C. M., Inglehearn, C. F., Ben-Yosef, T., Blumenfeld, A., Jalas, C., Banin, E., Sharon, D. <strong>Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.</strong> JAMA Ophthal. 133: 312-318, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25541840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25541840</a>] [<a href="https://doi.org/10.1001/jamaophthalmol.2014.5251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25541840">Shevach et al. (2015)</a> performed exome sequencing of the BBS2 gene and identified compound heterozygous missense mutations: a c.98C-A transversion, resulting in an ala-to-asp (A33D) substitution, and a c.401C-G transversion, resulting in a pro134-to-arg (P134R; <a href="#0020">606151.0020</a>) substitution. The affected amino acids are highly conserved in evolution. The mutations segregated with the disorder in the family. The c.98C-A mutation was absent in 160 control chromosomes, and the c.401C-G mutation was found in 1 of 160 control chromosomes. Neither mutation was found in the Exome Variant Server database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25541840" 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> rs376306240 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs376306240;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/rs376306240?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=rs376306240" 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=rs376306240" 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=RCV000190988 OR RCV000675071 OR RCV001002875 OR RCV001049931 OR RCV001074319" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190988, RCV000675071, RCV001002875, RCV001049931, RCV001074319" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190988...</a>
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<p>For discussion of the c.401C-G transversion in the BBS2 gene, resulting in a pro134-to-arg (P134R) substitution, that was found in compound heterozygous state in patients with nonsyndromic retinitis pigmentosa (RP74; <a href="/entry/616562">616562</a>) by <a href="#17" class="mim-tip-reference" title="Shevach, E., Ali, M., Mizrahi-Meissonnier, L., McKibbin, M., El-Asrag, M., Watson, C. M., Inglehearn, C. F., Ben-Yosef, T., Blumenfeld, A., Jalas, C., Banin, E., Sharon, D. <strong>Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.</strong> JAMA Ophthal. 133: 312-318, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25541840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25541840</a>] [<a href="https://doi.org/10.1001/jamaophthalmol.2014.5251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25541840">Shevach et al. (2015)</a>, see <a href="#0019">606151.0019</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25541840" 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="Berbari2008" class="mim-anchor"></a>
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Berbari, N. F., Lewis, J. S., Bishop, G. A., Askwith, C. C., Mykytyn, K.
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<strong>Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia.</strong>
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Proc. Nat. Acad. Sci. 105: 4242-4246, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18334641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18334641</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18334641[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=18334641" 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.0711027105" target="_blank">Full Text</a>]
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Chong, J. X., Ouwenga, R., Anderson, R. L., Waggoner, D. J., Ober, C.
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<strong>A population-based study of autosomal-recessive disease-causing mutations in a founder population.</strong>
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Am. J. Hum. Genet. 91: 608-620, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22981120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22981120</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22981120[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=22981120" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Personal Communication.</strong>
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Baltimore, Md. 9/21/2015.
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Innes, A. M., Boycott, K. M., Puffenberger, E. G., Redl, D., MacDonald, I. M., Chudley, A. E., Beaulieu, C., Perrier, R., Gillan, T., Wade, A., Parboosingh, J. S.
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<strong>A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.</strong>
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Clin. Genet. 78: 424-431, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20618352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20618352</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20618352" 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/10.1111/j.1399-0004.2010.01481.x" target="_blank">Full Text</a>]
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Jin, H., White, S. R., Shida, T., Schulz, S., Aguiar, M., Gygi, S. P., Bazan, J. F., Nachury, M. V.
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<strong>The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.</strong>
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Cell 141: 1208-1219, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20603001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20603001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20603001[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=20603001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.cell.2010.05.015" target="_blank">Full Text</a>]
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Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R.
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<strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong>
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Science 293: 2256-2259, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11567139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11567139</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11567139" 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/10.1126/science.1063525" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Kwitek-Black1993" class="mim-anchor"></a>
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<div class="">
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Kwitek-Black, A. E., Carmi, R., Duyk, G. M., Buetow, K. H., Elbedour, K., Parvari, R., Yandava, C. N., Stone, E. M., Sheffield, V. C.
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<strong>Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.</strong>
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Nature Genet. 5: 392-396, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298649</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298649" 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/ng1293-392" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Laurier2006" class="mim-anchor"></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="9" class="mim-anchor"></a>
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<a id="Loktev2008" class="mim-anchor"></a>
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<div class="">
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Loktev, A. V., Zhang, Q., Beck, J. S., Searby, C. C., Scheetz, T. E., Bazan, J. F., Slusarski, D. C., Sheffield, V. C., Jackson, P. K., Nachury, M. V.
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<strong>A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.</strong>
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Dev. Cell 15: 854-865, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19081074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19081074</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19081074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.devcel.2008.11.001" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Nachury2007" class="mim-anchor"></a>
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Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peranen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., Jackson, P. K.
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<strong>A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.</strong>
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Cell 129: 1201-1213, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17574030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17574030</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17574030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.cell.2007.03.053" target="_blank">Full Text</a>]
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<a id="Nishimura2004" class="mim-anchor"></a>
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Nishimura, D. Y., Fath, M., Mullins, R. F., Searby, C., Andrews, M., Davis, R., Andorf, J. L., Mykytyn, K., Swiderski, R. E., Yang, B., Carmi, R., Stone, E. M., Sheffield, V. C.
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<strong>Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.</strong>
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Proc. Nat. Acad. Sci. 101: 16588-16593, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15539463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15539463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15539463[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=15539463" 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.0405496101" target="_blank">Full Text</a>]
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<a id="Nishimura2001" class="mim-anchor"></a>
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<div class="">
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Nishimura, D. Y., Searby, C. C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A. B., Lam, B. L., Powell, B. R., Swiderski, R. E., Bugge, K. E., Haider, N. B., Kwitek-Black, A. E., Ying, L., Duhl, D. M., Gorman, S. W., Heon, E., Iannaccone, A., Bonneau, D., Biesecker, L. G., Jacobson, S. G., Stone, E. M., Sheffield, V. C.
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<strong>Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).</strong>
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Hum. Molec. Genet. 10: 865-874, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11285252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11285252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11285252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/10.8.865" target="_blank">Full Text</a>]
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<a id="Rahmouni2008" class="mim-anchor"></a>
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Rahmouni, K., Fath, M. A., Seo, S., Thedens, D. R., Berry, C. J., Weiss, R., Nishimura, D. Y., Sheffield, V. C.
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<strong>Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.</strong>
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J. Clin. Invest. 118: 1458-1467, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18317593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18317593</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18317593[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=18317593" 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/10.1172/JCI32357" target="_blank">Full Text</a>]
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<a id="Seo2009" class="mim-anchor"></a>
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Seo, S., Guo, D.-F., Bugge, K., Morgan, D. A., Rahmouni, K., Sheffield, V. C.
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<strong>Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.</strong>
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Hum. Molec. Genet. 18: 1323-1331, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19150989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19150989</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19150989[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=19150989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddp031" target="_blank">Full Text</a>]
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<a id="Seo2011" class="mim-anchor"></a>
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Seo, S., Zhang, Q., Bugge, K., Breslow, D. K., Searby, C. C., Nachury, M. V., Sheffield, V. C.
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<strong>A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.</strong>
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PLoS Genet. 7: e1002358, 2011. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22072986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22072986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22072986[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=22072986" 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/10.1371/journal.pgen.1002358" target="_blank">Full Text</a>]
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Shah, A. S., Farmen, S. L., Moninger, T. O., Businga, T. R., Andrews, M. P., Bugge, K., Searby, C. C., Nishimura, D., Brogden, K. A., Kline, J. N., Sheffield, V. C., Welsh, M. J.
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<strong>Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.</strong>
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Proc. Nat. Acad. Sci. 105: 3380-3385, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18299575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18299575</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18299575[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=18299575" 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.0712327105" target="_blank">Full Text</a>]
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Shevach, E., Ali, M., Mizrahi-Meissonnier, L., McKibbin, M., El-Asrag, M., Watson, C. M., Inglehearn, C. F., Ben-Yosef, T., Blumenfeld, A., Jalas, C., Banin, E., Sharon, D.
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<strong>Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.</strong>
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JAMA Ophthal. 133: 312-318, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25541840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25541840</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25541840" 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/10.1001/jamaophthalmol.2014.5251" 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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Matthew B. Gross - updated : 9/21/2015
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Carol A. Bocchini - updated : 9/21/2015<br>Ada Hamosh - updated : 2/7/2013<br>Patricia A. Hartz - updated : 11/12/2012<br>Cassandra L. Kniffin - updated : 9/13/2011<br>Patricia A. Hartz - updated : 10/13/2010<br>Cassandra L. Kniffin - updated : 3/3/2009<br>Marla J. F. O'Neill - updated : 7/22/2008<br>Patricia A. Hartz - updated : 7/2/2008<br>Patricia A. Hartz - updated : 5/21/2008<br>Patricia A. Hartz - updated : 2/21/2005<br>Ada Hamosh - updated : 10/3/2001
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George E. Tiller : 7/24/2001
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carol : 02/05/2016<br>carol : 1/30/2016<br>carol : 9/22/2015<br>mgross : 9/21/2015<br>carol : 9/21/2015<br>alopez : 3/30/2015<br>alopez : 10/21/2014<br>alopez : 10/21/2014<br>alopez : 10/16/2014<br>alopez : 2/13/2013<br>terry : 2/7/2013<br>mgross : 11/12/2012<br>carol : 10/12/2011<br>ckniffin : 9/13/2011<br>mgross : 10/15/2010<br>terry : 10/13/2010<br>wwang : 3/5/2009<br>ckniffin : 3/3/2009<br>wwang : 7/23/2008<br>terry : 7/22/2008<br>wwang : 7/9/2008<br>terry : 7/2/2008<br>mgross : 5/21/2008<br>mgross : 5/21/2008<br>carol : 10/5/2005<br>mgross : 2/21/2005<br>carol : 8/19/2004<br>alopez : 7/18/2002<br>cwells : 10/25/2001<br>alopez : 10/5/2001<br>terry : 10/3/2001<br>terry : 10/3/2001<br>cwells : 7/27/2001<br>cwells : 7/24/2001
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 606151
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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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BBS2 GENE; BBS2
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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-text-font">
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<strong><em>HGNC Approved Gene Symbol: BBS2</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: 16q13
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:56,470,403-56,520,024 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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16q13
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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 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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615981
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Retinitis pigmentosa 74
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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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616562
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>BBS2 is 1 of 7 BBS proteins that form the stable core of a protein complex required for ciliogenesis (Nachury et al., 2007). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Nishimura et al. (2001) used physical mapping and sequence analysis to identify a novel BBS gene (designated BBS2) on chromosome 16q21. The BBS2 locus had been initially mapped to an 18-cM interval in a large inbred Bedouin kindred (Kwitek-Black et al., 1993); further analysis refined this locus to a 2-cM region distal to marker D16S408. The BBS2 open reading frame of 2163 bp encodes 721 amino acids. The gene is evolutionarily conserved and displays a wide pattern of tissue expression, including brain, kidney, adrenal gland, and thyroid gland. Mutations in the gene were identified in 3 of 18 unrelated BBS families. </p><p>Using microarray analysis, Shah et al. (2008) showed that human airway epithelia expressed all 12 BBS genes. Immunohistochemical analysis localized BBS2 and BBS4 (600374) to cellular structures associated with motile cilia. </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>Nishimura et al. (2001) found that the BBS2 gene contains 17 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By physical mapping and sequence analysis, Nishimura et al. (2001) mapped the BBS2 gene to chromosome 16q21. </p><p>Gross (2015) mapped the BBS2 gene to chromosome 16q13 based on an alignment of the BBS2 sequence (GenBank AF342736) with the genomic sequence (GRCh38).</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>Nachury et al. (2007) found that BBS1 (209901), BBS2, BBS4 (600374), BBS5 (603650), BBS7 (607590), BBS8 (TTC8; 608132), and BBS9 (607968) copurified in stoichiometric amounts from human retinal pigment epithelium (RPE) cells and from mouse testis. PCM1 (600299) and alpha-tubulin (see 602529)/beta-tubulin (191130) copurified in substoichiometric amounts. The apparent molecular mass of the complex, which Nachury et al. (2007) called the BBSome, was 438 kD, and it had a sedimentation coefficient of 14S. The complex localized with PCM1 to nonmembranous centriolar satellites in the cytoplasm and, in the absence of PCM1, to the ciliary membrane. Cotransfection and immunoprecipitation experiments suggested that BBS9 was the complex-organizing subunit and that BBS5 mediated binding to phospholipids, predominantly phosphatidylinositol 3-phosphate. BBS1 mediated interaction with RABIN8 (RAB3IP; 608686), the guanine nucleotide exchange factor for the small G protein RAB8 (RAB8A; 165040). Nachury et al. (2007) found that RAB8 promoted ciliary membrane growth through fusion of exocytic vesicles to the base of the ciliary membrane. They concluded that BBS proteins likely function in membrane trafficking to the primary cilium. </p><p>Loktev et al. (2008) found that BBIP10 (613605) copurified and cosedimented with the BBS protein complex from RPE cells. Knockdown of BBIP10 in RPE cells via small interfering RNA compromised assembly of the BBS protein complex and caused failure of ciliogenesis. Knockdown of BBS1, BBS5, or PCM1 resulted in a similar failure of ciliogenesis in RPE cells. Depletion of BBIP10 or BBS8 increased the frequency of centrosome splitting in interphase cells. BBIP10 also had roles in cytoplasmic microtubule stabilization and acetylation that appeared to be independent of its role in assembly of the BBS protein complex. </p><p>Using a protein pull-down assay with homogenized bovine retina, Jin et al. (2010) showed that ARL6 (608845) bound the BBS protein complex. Depletion of ARL6 in human RPE cells did not affect assembly of the complex, but it blocked its localization to cilia. Targeting of ARL6 and the protein complex to cilia required GTP binding by ARL6, but not ARL6 GTPase activity. When in the GTP-bound form, the N-terminal amphipathic helix of ARL6 bound brain lipid liposomes and recruited the BBS protein complex. Upon recruitment, the complex appeared to polymerize into an electron-dense planar coat, and it functioned in lateral transport of test cargo proteins to ciliary membranes. </p><p>By mass spectrometric analysis of transgenic mouse testis, Seo et al. (2011) found that Lxtfl1 (606568) copurified with human BBS4 and with the core mouse BBS complex subunits Bbs1, Bbs2, Bbs5, Bbs7, Bbs8, and Bbs9. Immunohistochemical analysis of human RPE cells showed colocalization of LXTFL1 and BBS9 in cytoplasmic punctae. Use of small interfering RNA revealed distinct functions for each BBS subunit in BBS complex assembly and trafficking. LZTFL1 depletion and overexpression studies showed a negative role for LZTFL1 in BBS complex trafficking, but no effect of LZTFL1 on BBS complex assembly. Mutation analysis revealed that the C-terminal half of Lztfl1 interacted with the C-terminal domain of Bbs9 and that the N-terminal half of Lztfl1 negatively regulated BBS complex trafficking. Depletion of several BBS subunits and LZTFL1 also altered Hedgehog (SHH; 600725) signaling, as measured by GLI1 (165220) expression and ciliary trafficking of SMO (SMOH; 601500). </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>Biochemical Features</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using computational analysis, Jin et al. (2010) found that the BBS protein complex shares structural features with the canonical coat complexes COPI (601924), COPII (see 610511), and clathrin AP1 (see 603531). BBS4 and BBS8 consist almost entirely of tetratricopeptide repeats (TPRs) (13 and 12.5 TPRs, respectively), which are predicted to fold into extended rod-shaped alpha solenoids. BBS1, BBS2, BBS7, and BBS9 each have an N-terminal beta-propeller fold followed by an amphipathic helical linker and a gamma-adaptin (AP1G1; 603533) ear motif. In BBS2, BBS7, and BBS9, the ear motif is followed by an alpha/beta platform domain and an alpha helix. In BBS1, a 4-helix bundle is inserted between the second and third blades of the beta propeller. BBS5 contains 2 pleckstrin (PLEK; 173570) homology domains and a 3-helix bundle, while BBIP10 consists of 2 alpha helices. Jin et al. (2010) concluded that the abundance of beta propellers, alpha solenoids, and appendage domains inside the BBS protein complex suggests that it shares an evolutionary relationship with canonical coat complexes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Bardet-Biedl Syndrome 2</em></strong></p><p>
|
|
By mutation screening of the BBS2 gene, Nishimura et al. (2001) revealed a homozygous 1-bp deletion in exon 8 (606151.0001) in a family with BBS (BBS2; 615981), predicting a protein product that is truncated 10 amino acids downstream of the deletion at codon 324. Two sequence variants were found on the affected chromosome in the other family. A T-to-G transversion at nucleotide 224, predicting a val75-to-gly substitution (606151.0002) in exon 2, was postulated to be the disease-causing mutation in this family. </p><p>In several families with Bardet-Biedl syndrome, Katsanis et al. (2001) identified numerous novel nonsense, frameshift, and missense mutations in the BBS2 gene in homozygosity and compound heterozygosity. Interestingly, 40% of these patients also had a third mutation in another BBS gene. </p><p><strong><em>Retinitis Pigmentosa 74</em></strong></p><p>
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|
In a Moroccan Jewish family in which 3 sibs with nonsyndromic retinitis pigmentosa (RP74; 616562) were found to be negative for mutations in previously reported RP-associated genes, Shevach et al. (2015) performed exome sequencing of the BBS2 gene and identified compound heterozygous missense mutations (A33D, 606151.0019 and P134R, 606151.0020) that segregated with the disorder. In further studies of 4 Ashkenazi Jewish families, Shevach et al. (2015) identified additional homozygous and compound heterozygous mutations in the BBS2 gene (see, e.g., 606151.0009-606151.0010). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Nishimura et al. (2004) found that Bbs2 -/- mice were born at less than the expected mendelian ratios. Mutant mice showed major components of the human phenotype, including obesity and retinopathy, and they also showed defective social function. The retinopathy in mutant mice was associated with cilia dysfunction. Other phenotypes in mutant mice associated with cilia dysfunction included renal cysts, male infertility, and a deficit in olfaction. Except for male infertility, these phenotypes were not caused by a complete absence of cilia. Bbs2 retinopathy involved normal retina development, followed by apoptotic death of photoreceptors. Photoreceptor death was preceded by mislocalization of rhodopsin, indicating a defect in protein transport. </p><p>Using mice lacking Bbs2, Bbs4, or Bbs6 (MKKS; 604896) and mice with the met390-to-arg (M390R; 209901.0001) mutation in Bbs1 (209901), Shah et al. (2008) showed that expression of BBS proteins was not required for ciliogenesis, but their loss caused structural defects in a fraction of cilia covering airway epithelia. The most common abnormality was bulges filled with vesicles near the tips of cilia, and this same misshapen appearance was present in airway cilia from all mutant mouse strains. Cilia of Bbs4-null and Bbs1 mutant mice beat at a lower frequency than wildtype cilia. Neither airway hyperresponsiveness nor inflammation increased in Bbs2- or Bbs4-null mice immunized with ovalbumin compared with wildtype mice. Instead, mutant animals were partially protected from airway hyperresponsiveness. </p><p>Berbari et al. (2008) reported that BBS proteins are required for the localization of G protein-coupled receptors to primary cilia on central mouse neurons. Neurons deficient in Bbs2 or Bbs4 lacked ciliary localization of Sstr3 (182453) and Mchr1 (GPR24; 601751). Because MCHR1 is involved in the regulation of feeding behavior, Berbari et al. (2008) concluded that the BBS phenotype is due to altered signaling caused by mislocalization of ciliary signaling proteins. </p><p>Rahmouni et al. (2008) studied Bbs2 -/-, Bbs4 -/-, and Bbs6 -/- mice and found that obesity was associated with hyperleptinemia (164160) and resistance to the anorectic and weight-reducing effects of leptin. Although all 3 of the BBS mouse models were similarly resistant to the metabolic actions of leptin, only Bbs4 -/- and Bbs6 -/- mice remained responsive to the effects of leptin on renal sympathetic nerve activity and arterial pressure and developed hypertension. The authors also found that BBS mice had decreased hypothalamic expression of proopiomelanocortin (POMC; 176830), and suggested that BBS genes play an important role in maintaining leptin sensitivity in POMC neurons. </p><p>Seo et al. (2009) showed that BBS proteins were required for leptin receptor (LEPR; 601007) signaling in the hypothalamus in mice. Bbs2 -/-, Bbs4 -/-, and Bbs6 -/- mice were resistant to the action of leptin to reduce body weight and food intake regardless of serum leptin (LEP; 164160) levels and obesity. Activation of hypothalamic Stat3 (102582) by leptin was significantly decreased in Bbs2 -/-, Bbs4 -/-, and Bbs6 -/- mice. In contrast, downstream melanocortin receptor (see 155555) signaling was unaffected, indicating that Lepr signaling was specifically impaired in Bbs2 -/-, Bbs4 -/-, and Bbs6 -/- mice. Impaired Lepr signaling in BBS mice was associated with decreased Pomc (176830) gene expression. The human BBS1 protein physically interacted with LEPR, and loss of BBS proteins perturbed LEPR trafficking in human cells. Seo et al. (2009) concluded that BBS proteins mediate LEPR trafficking and that impaired LEPR signaling may underlie energy imbalance in BBS. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>20 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 BARDET-BIEDL SYNDROME 2</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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BBS2, 1-BP DEL, 940A
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<br />
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SNP: rs587777824,
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ClinVar: RCV000004830
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In affected members of a family with Bardet-Biedl syndrome (BBS2; 615981), Nishimura et al. (2001) identified a homozygous 1-bp deletion in exon 8 (940delA) of the BBS2 gene, predicting a truncated protein 10 amino acids downstream from codon 324. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0002 BARDET-BIEDL SYNDROME 2</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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BBS2, VAL75GLY
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<br />
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SNP: rs121908174,
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gnomAD: rs121908174,
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ClinVar: RCV000004831, RCV001002877
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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 the large inbred Bedouin BBS (BBS2; 615981) family described by Kwitek-Black et al. (1993) (family 1), Nishimura et al. (2001) revealed a T-to-G transversion at position 224 of the BBS2 gene, resulting in a val75-to-gly substitution in exon 2. Two sequence variants were found on the affected chromosome in this family; this sequence variant was postulated to be the disease-causing mutation. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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|
<div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 BARDET-BIEDL SYNDROME 2/6, DIGENIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
<div>
|
|
<span class="mim-text-font">
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|
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|
BBS2, TYR24TER
|
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|
|
<br />
|
|
|
|
SNP: rs121908175,
|
|
|
|
|
|
gnomAD: rs121908175,
|
|
|
|
|
|
ClinVar: RCV000004832, RCV000412476, RCV000589350, RCV000762970, RCV000787792, RCV001074960, RCV004732529
|
|
|
|
|
|
</span>
|
|
</div>
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|
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<div>
|
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<span class="mim-text-font">
|
|
<p>Katsanis et al. (2001) identified homozygosity for a tyrosine-to-termination substitution at codon 24 (Y24X) of the BBS2 gene in 2 unrelated patients with Bardet-Biedl syndrome (BBS2; 615981). One of those patients carried an additional mutation in the BBS6 gene (ala242-to-ser; see 604896.0001). The Y24X mutation was also found in compound heterozygosity with the gln59-to-ter mutation (606151.0004) in a patient who carried a third mutation in the MKKS gene (Q147X; 604896.0012). </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
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|
|
</div>
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|
<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 BARDET-BIEDL SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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BBS2, GLN59TER
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|
<br />
|
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|
|
SNP: rs121908176,
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|
|
gnomAD: rs121908176,
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|
|
|
ClinVar: RCV000004833, RCV000587533, RCV002490314, RCV003441704
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a BBS2 (615981) patient, Katsanis et al. (2001) identified compound heterozygosity for a glutamine-to-termination substitution at codon 59 in the BBS2 gene. This mutation was found with the Y24X mutation (606151.0003) and also the gln147-to-ter mutation in MKKS (604896.0012). </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 BARDET-BIEDL SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS2, ARG275TER
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|
|
<br />
|
|
|
|
SNP: rs121908177,
|
|
|
|
|
|
gnomAD: rs121908177,
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|
|
|
|
|
ClinVar: RCV000004834, RCV000269226, RCV000493074, RCV000762967, RCV001074104, RCV002466394, RCV004528072
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a BBS2 (615981) patient, Katsanis et al. (2001) identified an arg-to-ter substitution at codon 275 of the BBS2 gene in homozygosity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 BARDET-BIEDL SYNDROME 2/4, DIGENIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS2, ARG315TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908178,
|
|
|
|
|
|
gnomAD: rs121908178,
|
|
|
|
|
|
ClinVar: RCV000004835, RCV000675099, RCV001226053, RCV001257834, RCV003887853, RCV005016240
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Bardet-Biedl syndrome (BBS2; 615981), Katsanis et al. (2001) found homozygosity for an arg-to-trp mutation at codon 315 of the BBS2 gene. This patient was also homozygous by descent for the BBS4 locus (600374). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 BARDET-BIEDL SYNDROME 1/2, DIGENIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS2, ASP170FS, TER171
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000004836
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Bardet-Biedl syndrome (BBS2; 615981), Katsanis et al. (2001) identified homozygosity for a frameshift mutation at codon 170 of the BBS2 gene, resulting in a termination codon at codon 171. In addition to these 2 mutations, the patient was also homozygous by descent for the BBS1 locus (209901). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 BARDET-BIEDL SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS2, CYS210FS, TER246
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000004837
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Bardet-Biedl syndrome (BBS2; 615981), Katsanis et al. (2001) identified homozygosity for a frameshift at codon 210 of the BBS2 gene, resulting in a termination codon at residue 246. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 BARDET-BIEDL SYNDROME 1/2, DIGENIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
RETINITIS PIGMENTOSA 74, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS2, ASP104ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908179,
|
|
|
|
|
|
gnomAD: rs121908179,
|
|
|
|
|
|
ClinVar: RCV000004839, RCV000190985, RCV000587645, RCV000665304, RCV000762969, RCV001002876, RCV001582466, RCV004532290
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p />
|
|
<p><strong><em>Bardet-Biedl Syndrome 2</em></strong></p><p>
|
|
In a patient with Bardet-Biedl syndrome (BBS2; 615981), Katsanis et al. (2001) identified compound heterozygosity for an aspartic acid-to-alanine substitution at codon 104 (D104A) of the BBS2 gene. The other allele contained an arg-to-pro substitution at codon 634 (later corrected to arg632-to-pro (R632P; 606151.0010) by Shevach et al., 2015). Katsanis et al. (2001) also identified a patient who was linked to the BBS1 locus who carried the D104A mutation in BBS2. </p><p><strong><em>Retinitis Pigmentosa 74</em></strong></p><p>
|
|
In 2 brothers in a nonconsanguineous Ashkenazi Jewish family (MOL0970) with nonsyndromic retinitis pigmentosa-74 (RP74; 616562) who were found to be negative for previously reported RP-associated genes and for other genes associated with BBS, Shevach et al. (2015) identified homozygosity for a c.311A-C transversion in the BBS2 gene, resulting in a D104A substitution. In 2 patients with nonsyndromic RP from unrelated nonconsanguineous Ashkenazi Jewish families (MOL0714 and RD158), Shevach et al. (2015) identified compound heterozygosity for D104A and R632P (606151.0010). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 BARDET-BIEDL SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
RETINITIS PIGMENTOSA 74, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS2, ARG632PRO ({dbSNP rs138043021})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs138043021,
|
|
|
|
|
|
gnomAD: rs138043021,
|
|
|
|
|
|
ClinVar: RCV000004840, RCV000190986, RCV000380902, RCV000589221, RCV001002874, RCV001073916, RCV001268711, RCV002490315, RCV002512776
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p />
|
|
<p><strong><em>Bardet-Biedl Syndrome 2</em></strong></p><p>
|
|
In a patient with Bardet-Biedl syndrome (BBS2; 615981) but with normal development and no evidence of renal dysplasia, Katsanis et al. (2001) identified compound heterozygosity for mutations in the BBS2 gene: an arg-to-pro substitution at codon 634 (later corrected to codon 632 (R632P) by Shevach et al., 2015) and an asp-to-ala substitution at codon 104 (D104A; 606151.0009). </p><p><strong><em>Retinitis Pigmentosa 74</em></strong></p><p>
|
|
In 2 Ashkenazi Jewish patients with nonsyndromic retinitis pigmentosa-74 (RP74; 616562) from unrelated nonconsanguineous families (MOL0714 and RD158), Shevach et al. (2015) identified the same compound heterozygous mutations in the BBS2 gene that had been identified in a patient with Bardet-Biedl syndrome-2 reported by Katsanis et al. (2001): a c.1895G-C transversion (rs138043021), resulting in an R632P substitution, and D104A (606151.0009). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 BARDET-BIEDL SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS2, IVS1AS, G-C, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777825,
|
|
|
|
|
|
|
|
ClinVar: RCV000004841
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (PB045) with Bardet-Biedl syndrome (see BBS2, 615981) genetically excluded from the BBS2 locus, Katsanis et al. (2001) nevertheless identified one BBS2 mutation, a G-to-C substitution at the splice acceptor site of intron 1. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 BARDET-BIEDL SYNDROME 1/2, DIGENIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS2, VAL158FS, TER200
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777826,
|
|
|
|
|
|
|
|
ClinVar: RCV000004842, RCV001390312, RCV002504748
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Bardet-Biedl syndrome (BBS2; 615981) linked to the BBS1 locus (209901), Katsanis et al. (2001) found a third mutation in BBS2: a frameshift mutation at codon 158, resulting in a premature termination codon at residue 200. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 BARDET-BIEDL SYNDROME 2/6, DIGENIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS2, ASN70SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs4784677,
|
|
|
|
|
|
gnomAD: rs4784677,
|
|
|
|
|
|
ClinVar: RCV000004838, RCV000860491
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a BBS (615981) patient homozygous for a missense mutation in the MKKS gene (Y37C; 604896.0003), Katsanis et al. (2001) identified a third mutation in the BBS2 gene: an asparagine-to-serine substitution at codon 70. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 BARDET-BIEDL SYNDROME 2/6, DIGENIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS2, LEU168FS, TER170
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000004843
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Bardet-Biedl syndrome (BBS2; 615981), Katsanis et al. (2001) identified compound heterozygosity for 2 termination codons in the BBS2 gene: the first was a frameshift mutation at codon 168, resulting in a termination codon at residue 170. This was in compound heterozygosity with an arg216-to-ter mutation (606151.0016). This patient was also found to have a third mutation in the MKKS gene, cys499-to-ser (604896.0013). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 BARDET-BIEDL SYNDROME 2/4, DIGENIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BBS2, THR560ILE
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000004844
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
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<span class="mim-text-font">
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<p>In a patient with Bardet-Biedl syndrome (BBS2; 615981), Katsanis et al. (2001) found homozygosity for a threonine-to-isoleucine substitution at codon 560 of the BBS2 gene. This patient also was homozygous by descent for the BBS4 locus (600374). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0016 BARDET-BIEDL SYNDROME 2/6, 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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BBS2, ARG216TER
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<br />
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SNP: rs121908180,
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gnomAD: rs121908180,
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ClinVar: RCV000004845, RCV000668482, RCV000787791, RCV001056084, RCV005016241
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with Bardet-Biedl syndrome (BBS2; 615981), Katsanis et al. (2001) identified compound heterozygosity for mutations in the BBS2 gene, a frameshift mutation at codon 168 (606151.0014) and an arg-to-ter substitution at codon 216. This patient also carried a third mutation at the MKKS locus (cys499 to ser; 604896.0013). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0017 BARDET-BIEDL SYNDROME 2</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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BBS2, GLY139VAL
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<br />
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SNP: rs121908181,
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ClinVar: RCV000004846
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 affected individuals from a sibship within the large consanguineous Lebanese kindred with Bardet-Biedl syndrome (BBS2; 615981) reported by Stoetzel et al. (2006), Laurier et al. (2006) identified a homozygous gly139-to-val (G139V) substitution in the BBS2 gene. Other affected individuals in different sibships of the same kindred were found to have mutations in the BBS10 gene (610148.0004 and 610148.0005). There was no evidence for triallelism. The authors commented on the unusual finding of mutations in 2 different genes within a single large consanguineous kindred. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0018 BARDET-BIEDL SYNDROME 2</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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BBS2, IVS3AS, G-A, -2 ({dbSNP rs137854887})
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<br />
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SNP: rs137854887,
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gnomAD: rs137854887,
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ClinVar: RCV000023507, RCV001852022, RCV004532399
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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 19-year-old Hutterite man with Bardet-Biedl syndrome (BBS2; 615981), Innes et al. (2010) identified a homozygous G-to-A transition in intron 3 of the BBS2 gene (472-2A-G), resulting in a splice site mutation. The mutation was identified by genomewide SNP microarray analysis, as microsatellite analysis failed to confirm a candidate region of homozygosity by descent. Two abnormal transcripts were identified from the patient's cDNA: 1 lacking exon 4 and the other lacking exons 3 and 4. Three additional Hutterite patients with BBS were found to share the same haplotype surrounding the mutation, consistent with a founder effect in this population. Innes et al. (2010) estimated the age of the mutation to be more than 135 years. </p><p>Among 1,518 Schmiedeleut (S-leut) Hutterites from the United States, Chong et al. (2012) found 42 heterozygotes and no homozygotes for the BBS2 IVS3-2A-G mutation, for a frequency of 0.028, or 1 in 36. This is a private mutation in the Hutterite population. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0019 RETINITIS PIGMENTOSA 74</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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BBS2, ALA33ASP
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<br />
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SNP: rs797045155,
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gnomAD: rs797045155,
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ClinVar: RCV000190987, RCV000675055, RCV001002878, RCV001380380, RCV004539761
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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 nonconsanguineous Moroccan Jewish family (MOL0369) in which 3 sibs with nonsyndromic retinitis pigmentosa (RP74; 616562) were found to be negative for mutations in previously reported RP-associated genes, Shevach et al. (2015) performed exome sequencing of the BBS2 gene and identified compound heterozygous missense mutations: a c.98C-A transversion, resulting in an ala-to-asp (A33D) substitution, and a c.401C-G transversion, resulting in a pro134-to-arg (P134R; 606151.0020) substitution. The affected amino acids are highly conserved in evolution. The mutations segregated with the disorder in the family. The c.98C-A mutation was absent in 160 control chromosomes, and the c.401C-G mutation was found in 1 of 160 control chromosomes. Neither mutation was found in the Exome Variant Server database. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0020 RETINITIS PIGMENTOSA 74</strong>
|
|
</span>
|
|
</h4>
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</div>
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<div>
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<span class="mim-text-font">
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BBS2, PRO134ARG
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<br />
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SNP: rs376306240,
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gnomAD: rs376306240,
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|
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ClinVar: RCV000190988, RCV000675071, RCV001002875, RCV001049931, RCV001074319
|
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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>For discussion of the c.401C-G transversion in the BBS2 gene, resulting in a pro134-to-arg (P134R) substitution, that was found in compound heterozygous state in patients with nonsyndromic retinitis pigmentosa (RP74; 616562) by Shevach et al. (2015), see 606151.0019. </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>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
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<div>
|
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<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Berbari, N. F., Lewis, J. S., Bishop, G. A., Askwith, C. C., Mykytyn, K.
|
|
<strong>Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia.</strong>
|
|
Proc. Nat. Acad. Sci. 105: 4242-4246, 2008.
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[PubMed: 18334641]
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[Full Text: https://doi.org/10.1073/pnas.0711027105]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Chong, J. X., Ouwenga, R., Anderson, R. L., Waggoner, D. J., Ober, C.
|
|
<strong>A population-based study of autosomal-recessive disease-causing mutations in a founder population.</strong>
|
|
Am. J. Hum. Genet. 91: 608-620, 2012.
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[PubMed: 22981120]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.08.007]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gross, M. B.
|
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<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 9/21/2015.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Innes, A. M., Boycott, K. M., Puffenberger, E. G., Redl, D., MacDonald, I. M., Chudley, A. E., Beaulieu, C., Perrier, R., Gillan, T., Wade, A., Parboosingh, J. S.
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<strong>A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.</strong>
|
|
Clin. Genet. 78: 424-431, 2010.
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[PubMed: 20618352]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2010.01481.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Jin, H., White, S. R., Shida, T., Schulz, S., Aguiar, M., Gygi, S. P., Bazan, J. F., Nachury, M. V.
|
|
<strong>The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.</strong>
|
|
Cell 141: 1208-1219, 2010.
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[PubMed: 20603001]
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[Full Text: https://doi.org/10.1016/j.cell.2010.05.015]
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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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Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., Lupski, J. R.
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<strong>Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder.</strong>
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Science 293: 2256-2259, 2001.
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[PubMed: 11567139]
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[Full Text: https://doi.org/10.1126/science.1063525]
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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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Kwitek-Black, A. E., Carmi, R., Duyk, G. M., Buetow, K. H., Elbedour, K., Parvari, R., Yandava, C. N., Stone, E. M., Sheffield, V. C.
|
|
<strong>Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.</strong>
|
|
Nature Genet. 5: 392-396, 1993.
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|
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[PubMed: 8298649]
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[Full Text: https://doi.org/10.1038/ng1293-392]
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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.
|
|
<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.
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|
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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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Loktev, A. V., Zhang, Q., Beck, J. S., Searby, C. C., Scheetz, T. E., Bazan, J. F., Slusarski, D. C., Sheffield, V. C., Jackson, P. K., Nachury, M. V.
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<strong>A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.</strong>
|
|
Dev. Cell 15: 854-865, 2008.
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[PubMed: 19081074]
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[Full Text: https://doi.org/10.1016/j.devcel.2008.11.001]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peranen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., Jackson, P. K.
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<strong>A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.</strong>
|
|
Cell 129: 1201-1213, 2007.
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|
[PubMed: 17574030]
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[Full Text: https://doi.org/10.1016/j.cell.2007.03.053]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Nishimura, D. Y., Fath, M., Mullins, R. F., Searby, C., Andrews, M., Davis, R., Andorf, J. L., Mykytyn, K., Swiderski, R. E., Yang, B., Carmi, R., Stone, E. M., Sheffield, V. C.
|
|
<strong>Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.</strong>
|
|
Proc. Nat. Acad. Sci. 101: 16588-16593, 2004.
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|
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[PubMed: 15539463]
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[Full Text: https://doi.org/10.1073/pnas.0405496101]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Nishimura, D. Y., Searby, C. C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A. B., Lam, B. L., Powell, B. R., Swiderski, R. E., Bugge, K. E., Haider, N. B., Kwitek-Black, A. E., Ying, L., Duhl, D. M., Gorman, S. W., Heon, E., Iannaccone, A., Bonneau, D., Biesecker, L. G., Jacobson, S. G., Stone, E. M., Sheffield, V. C.
|
|
<strong>Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).</strong>
|
|
Hum. Molec. Genet. 10: 865-874, 2001.
|
|
|
|
|
|
[PubMed: 11285252]
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|
|
[Full Text: https://doi.org/10.1093/hmg/10.8.865]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Rahmouni, K., Fath, M. A., Seo, S., Thedens, D. R., Berry, C. J., Weiss, R., Nishimura, D. Y., Sheffield, V. C.
|
|
<strong>Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.</strong>
|
|
J. Clin. Invest. 118: 1458-1467, 2008.
|
|
|
|
|
|
[PubMed: 18317593]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI32357]
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|
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Seo, S., Guo, D.-F., Bugge, K., Morgan, D. A., Rahmouni, K., Sheffield, V. C.
|
|
<strong>Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.</strong>
|
|
Hum. Molec. Genet. 18: 1323-1331, 2009.
|
|
|
|
|
|
[PubMed: 19150989]
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|
|
[Full Text: https://doi.org/10.1093/hmg/ddp031]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Seo, S., Zhang, Q., Bugge, K., Breslow, D. K., Searby, C. C., Nachury, M. V., Sheffield, V. C.
|
|
<strong>A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.</strong>
|
|
PLoS Genet. 7: e1002358, 2011. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 22072986]
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[Full Text: https://doi.org/10.1371/journal.pgen.1002358]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Shah, A. S., Farmen, S. L., Moninger, T. O., Businga, T. R., Andrews, M. P., Bugge, K., Searby, C. C., Nishimura, D., Brogden, K. A., Kline, J. N., Sheffield, V. C., Welsh, M. J.
|
|
<strong>Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.</strong>
|
|
Proc. Nat. Acad. Sci. 105: 3380-3385, 2008.
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|
|
[PubMed: 18299575]
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[Full Text: https://doi.org/10.1073/pnas.0712327105]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Shevach, E., Ali, M., Mizrahi-Meissonnier, L., McKibbin, M., El-Asrag, M., Watson, C. M., Inglehearn, C. F., Ben-Yosef, T., Blumenfeld, A., Jalas, C., Banin, E., Sharon, D.
|
|
<strong>Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.</strong>
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JAMA Ophthal. 133: 312-318, 2015.
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[PubMed: 25541840]
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[Full Text: https://doi.org/10.1001/jamaophthalmol.2014.5251]
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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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Matthew B. Gross - updated : 9/21/2015<br>Carol A. Bocchini - updated : 9/21/2015<br>Ada Hamosh - updated : 2/7/2013<br>Patricia A. Hartz - updated : 11/12/2012<br>Cassandra L. Kniffin - updated : 9/13/2011<br>Patricia A. Hartz - updated : 10/13/2010<br>Cassandra L. Kniffin - updated : 3/3/2009<br>Marla J. F. O'Neill - updated : 7/22/2008<br>Patricia A. Hartz - updated : 7/2/2008<br>Patricia A. Hartz - updated : 5/21/2008<br>Patricia A. Hartz - updated : 2/21/2005<br>Ada Hamosh - updated : 10/3/2001
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George E. Tiller : 7/24/2001
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