3530 lines
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Entry
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- *607928 - WHIRLIN; WHRN
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- OMIM
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<p>
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<span class="h4">*607928</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<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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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607928">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel 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="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=ENSG00000095397;t=ENST00000362057" 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=25861" 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=607928" 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 id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000095397;t=ENST00000362057" 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_001083885,NM_001173425,NM_001346890,NM_015404,XM_011518485,XM_011518486,XM_011518487,XM_011518491,XM_011518492,XM_011518494,XM_047423161,XM_047423163,XM_047423164,XM_047423165,XM_047423166,XM_047423167,XM_047423168,XM_047423169,XM_047423170,XM_047423171,XM_047423173,XM_047423174,XR_929749,XR_929750,XR_929752,XR_929753,XR_929754,XR_929755,XR_929756,XR_929757" 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_015404" 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=607928" 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=09718&isoform_id=09718_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/WHRN" 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/10434490,57997032,119607826,119607827,119607828,119607829,148745108,148745626,223462730,290746376,290746378,290746380,767956916,767956918,767956920,767956940,767956942,767956946,929654566,1100819017,1375383941,2217376591,2217376593,2217376596,2217376598,2217376600,2217376602,2217376604,2217376606,2217376608,2217376610,2217376614,2217376625,2462623997,2462623999,2462624001,2462624003,2462624005,2462624007,2462624009,2462624011,2462624013,2462624015,2462624017,2462624021,2462624028,2462624030,2462624032,2462624034" 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/Q9P202" 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=25861" 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=ENSG00000095397;t=ENST00000362057" 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=WHRN" 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=WHRN" 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+25861" 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/WHRN" 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:25861" 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/25861" 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=chr9&hgg_gene=ENST00000362057.4&hgg_start=114402080&hgg_end=114505473&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16361" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:16361" 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=607928[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607928[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000095397" 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=WHRN" 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=WHRN" 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=WHRN" 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.LOVD.nl/WHRN" title="Retinal and hearing impairment genetic mutation database WHRN" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Retinal and hearing impair…</a></div><div style="margin-left: 0.5em;"><a href="https://research.cchmc.org/LOVD2/home.php?select_db=DFNB31" title="CCHMC - Human Genetics Mutation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">CCHMC - Human Genetics Mut…</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=WHRN&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/PA27297" 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:16361" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0264006.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2682003" 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/WHRN#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:2682003" 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/25861/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=25861" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060526-377" 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=WHRN&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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607928
|
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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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WHIRLIN; WHRN
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CASK-INTERACTING PROTEIN, 98-KD; CIP98<br />
|
|
KIAA1526
|
|
</span>
|
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</h4>
|
|
</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=WHRN" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">WHRN</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/9/443?start=-3&limit=10&highlight=443">9q32</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:114402080-114505473&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'})">9:114,402,080-114,505,473</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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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>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=607084,611383" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/443?start=-3&limit=10&highlight=443">
|
|
9q32
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Deafness, autosomal recessive 31
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/607084"> 607084 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
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|
|
|
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|
|
|
</tr>
|
|
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|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Usher syndrome, type 2D
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/611383"> 611383 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p>In rat brain, Whrn, or Cip98, interacts with a calmodulin-dependent serine kinase, Cask (<a href="/entry/300172">300172</a>), and may be involved in the formation of scaffolding protein complexes that facilitate synaptic transmission in the central nervous system (<a href="#13" class="mim-tip-reference" title="Yap, C. C., Liang, F., Yamazaki, Y., Muto, Y., Kishida, H., Hayashida, T., Hashikawa, T., Yano, R. <strong>CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase.</strong> J. Neurochem. 85: 123-134, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12641734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12641734</a>] [<a href="https://doi.org/10.1046/j.1471-4159.2003.01647.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12641734">Yap et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12641734" 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 sequencing clones obtained from a size-fractionated fetal brain cDNA library, <a href="#10" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 143-150, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10819331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10819331</a>] [<a href="https://doi.org/10.1093/dnares/7.2.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10819331">Nagase et al. (2000)</a> cloned CIP98, which they designated KIAA1526. The deduced protein contains 963 amino acids. RT-PCR ELISA detected restricted expression of CIP98. Moderate levels were detected in adult and fetal whole brain, followed by adult pancreas, spleen, testis, and ovary. Low expression was detected in adult lung and liver and in fetal liver, and little to no expression was detected in heart, skeletal muscle, and kidney. Examination of specific brain regions revealed strong expression in amygdala, corpus callosum, and substantia nigra, and moderate expression in all other specific brain regions examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10819331" 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="Yap, C. C., Liang, F., Yamazaki, Y., Muto, Y., Kishida, H., Hayashida, T., Hashikawa, T., Yano, R. <strong>CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase.</strong> J. Neurochem. 85: 123-134, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12641734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12641734</a>] [<a href="https://doi.org/10.1046/j.1471-4159.2003.01647.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12641734">Yap et al. (2003)</a> cloned rat Cip98. The deduced 920-amino acid protein contains 3 PDZ domains and a proline-rich region that separates PDZ2 from PDZ3, which is located at the C terminus. In situ hybridization and immunohistochemical staining demonstrated that Cip98 was expressed in certain neurons, including pyramidal cells in layers III to V of the cerebral cortex, projecting neurons in the thalamus, and interneurons in the cerebellum. Cip98 localized to both dendrites and axons. Cip98 showed an apparent molecular mass of 98 kD by Western blot analysis of rat brain lysates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12641734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R. H., Rump, A., Hardisty, R. E., Blanchard, S., Coimbra, R. S., Perfettini, I., Parkinson, N., and 12 others. <strong>Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.</strong> Nature Genet. 34: 421-428, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12833159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12833159</a>] [<a href="https://doi.org/10.1038/ng1208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12833159">Mburu et al. (2003)</a> demonstrated that the human WHRN gene is alternatively spliced to form a long and a short transcript. Northern blot analysis identified 2 transcripts of approximately 1.8 kb and 4 kb in liver and testis and a single 4-kb transcript in kidney, brain, heart, and lung. A strong Kozak sequence in both mouse and human exon 6 identified the putative ATG start of the short C-terminal transcript and predicted a protein of 465 amino acids with a molecular mass of 49.3 kD. In exon 1, the translation initiation site was identified by a Kozak consensus sequence preceded by an in-frame stop codon located 153 kb upstream. The deduced protein of 906 amino acids (441 amino acids longer than the short C-terminal isoform) has a molecular mass of 97.3 kD. The sequence of the encoded protein showed that the short C-terminal isoform contains 1 PDZ domain and 1 proline-rich domain, whereas the long isoform is composed of 3 PDZ domains and 1 proline-rich domain. The proline-rich domain located between the PDZ2 and PDZ3 domains contains several short stretches of polyproline. <a href="#8" class="mim-tip-reference" title="Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R. H., Rump, A., Hardisty, R. E., Blanchard, S., Coimbra, R. S., Perfettini, I., Parkinson, N., and 12 others. <strong>Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.</strong> Nature Genet. 34: 421-428, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12833159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12833159</a>] [<a href="https://doi.org/10.1038/ng1208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12833159">Mburu et al. (2003)</a> found that the amino acid sequences of mouse and human WHRN are 88% identical across the entire coding sequence but 94.4% in the PDZ domains. The most closely homologous human protein was found to be harmonin (<a href="/entry/605242">605242</a>), with which whirlin shared 65% similarity in their 3 PDZ domains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12833159" 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="Belyantseva, I. A., Boger, E. T., Naz, S., Frolenkov, G. I., Sellers, J. R., Ahmed, Z. M., Griffith, A. J., Friedman, T. B. <strong>Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.</strong> Nature Cell Biol. 7: 148-156, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15654330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15654330</a>] [<a href="https://doi.org/10.1038/ncb1219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15654330">Belyantseva et al. (2005)</a> identified 10 splice variants of mouse Whrn that were predicted to encode proteins ranging from 156 to 918 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15654330" 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="#8" class="mim-tip-reference" title="Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R. H., Rump, A., Hardisty, R. E., Blanchard, S., Coimbra, R. S., Perfettini, I., Parkinson, N., and 12 others. <strong>Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.</strong> Nature Genet. 34: 421-428, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12833159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12833159</a>] [<a href="https://doi.org/10.1038/ng1208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12833159">Mburu et al. (2003)</a> demonstrated that the human WHRN gene contains 12 exons. The short C-terminal isoform is encoded by 8 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12833159" 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 radiation hybrid analysis, <a href="#10" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 143-150, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10819331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10819331</a>] [<a href="https://doi.org/10.1093/dnares/7.2.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10819331">Nagase et al. (2000)</a> mapped the WHRN gene to chromosome 9. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10819331" 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="#13" class="mim-tip-reference" title="Yap, C. C., Liang, F., Yamazaki, Y., Muto, Y., Kishida, H., Hayashida, T., Hashikawa, T., Yano, R. <strong>CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase.</strong> J. Neurochem. 85: 123-134, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12641734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12641734</a>] [<a href="https://doi.org/10.1046/j.1471-4159.2003.01647.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12641734">Yap et al. (2003)</a> determined that rat Cip98 interacted with Cask, a member of the membrane-associated guanylate kinase (MAGUK) family that organizes proteins at synapses. Cip98 colocalized with Cask along the dendritic processes of neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12641734" 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 immunolocalization, <a href="#5" class="mim-tip-reference" title="Kikkawa, Y., Mburu, P., Morse, S., Kominami, R., Townsend, S., Brown, S. D. M. <strong>Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium.</strong> Hum. Molec. Genet. 14: 391-400, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15590699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15590699</a>] [<a href="https://doi.org/10.1093/hmg/ddi035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15590699">Kikkawa et al. (2005)</a> showed that whirlin localized to the tips of mouse stereocilia. Expression of whirlin was dynamic during stereocilia growth, demonstrating an ordered appearance and fade-out across the stereocilia rows and revealing a molecular gradation process starting with the taller stereocilia and traversing to the shorter stereocilia. Fade-out of whirlin in inner hair cells preceded that of outer hair cells, consistent with the earlier maturation of inner hair cell stereocilia. In myosin XVa (MYO15A; <a href="/entry/602666">602666</a>) mutants in which stereocilia were shortened, whirlin expression in stereocilia tips was stalled and fade-out was accelerated. In whirlin mutants, myosin XVa was still expressed in stereocilia, but its appearance at the stereocilia tip was delayed. <a href="#5" class="mim-tip-reference" title="Kikkawa, Y., Mburu, P., Morse, S., Kominami, R., Townsend, S., Brown, S. D. M. <strong>Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium.</strong> Hum. Molec. Genet. 14: 391-400, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15590699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15590699</a>] [<a href="https://doi.org/10.1093/hmg/ddi035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15590699">Kikkawa et al. (2005)</a> concluded that whirlin expression is a critical and dynamic organizer for stereocilia elongation and actin polymerization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15590699" 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="Belyantseva, I. A., Boger, E. T., Naz, S., Frolenkov, G. I., Sellers, J. R., Ahmed, Z. M., Griffith, A. J., Friedman, T. B. <strong>Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.</strong> Nature Cell Biol. 7: 148-156, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15654330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15654330</a>] [<a href="https://doi.org/10.1038/ncb1219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15654330">Belyantseva et al. (2005)</a> determined that the C-terminal PDZ ligand of mouse Myo15a interacted with the third PDZ domain of whirlin, and this interaction was required for the targeting of whirlin to the tips of stereocilia. Reintroduction of Myo15a into hair cells of Myo15a-deficient mice restored the recruitment of endogenous whirlin to the tips of stereocilia. <a href="#1" class="mim-tip-reference" title="Belyantseva, I. A., Boger, E. T., Naz, S., Frolenkov, G. I., Sellers, J. R., Ahmed, Z. M., Griffith, A. J., Friedman, T. B. <strong>Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.</strong> Nature Cell Biol. 7: 148-156, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15654330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15654330</a>] [<a href="https://doi.org/10.1038/ncb1219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15654330">Belyantseva et al. (2005)</a> concluded that the interaction of MYO15A with whirlin is a key event in hair bundle morphogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15654330" 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="Delprat, B., Michel, V., Goodyear, R., Yamasaki, Y., Michalski, N., El-Amraoui, A., Perfettini, I., Legrain, P., Richardson, G., Hardelin, J.-P., Petit, C. <strong>Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly.</strong> Hum. Molec. Genet. 14: 401-410, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15590698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15590698</a>] [<a href="https://doi.org/10.1093/hmg/ddi036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15590698">Delprat et al. (2005)</a> showed that the myosin XVa SH3-MyTH4 region bound to the short isoform of whirlin, whereas the C-terminal MyTH4-FERM region of myosin XVa bound to the PDZ1 and PDZ2 domains of the long whirlin isoform. The transmembrane netrin-G1 ligand (NGL1; <a href="/entry/608817">608817</a>) bound to the PDZ1 and PDZ2 domains of whirlin. <a href="#3" class="mim-tip-reference" title="Delprat, B., Michel, V., Goodyear, R., Yamasaki, Y., Michalski, N., El-Amraoui, A., Perfettini, I., Legrain, P., Richardson, G., Hardelin, J.-P., Petit, C. <strong>Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly.</strong> Hum. Molec. Genet. 14: 401-410, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15590698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15590698</a>] [<a href="https://doi.org/10.1093/hmg/ddi036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15590698">Delprat et al. (2005)</a> hypothesized that interaction between whirlin and NGL1 may be involved in the stabilization of interstereociliar links. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15590698" 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 yeast 2-hybrid analysis of a mouse embryo cDNA library, <a href="#7" class="mim-tip-reference" title="Mburu, P., Kikkawa, Y., Townsend, S., Romero, R., Yonekawa, H., Brown, S. D. M. <strong>Whirlin complexes with p55 at the stereocilia tip during hair cell development.</strong> Proc. Nat. Acad. Sci. 103: 10973-10978, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16829577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16829577</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16829577[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.0600923103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16829577">Mburu et al. (2006)</a> found that whirlin interacted with p55 (MPP1; <a href="/entry/305360">305360</a>), a member of the MAGUK family. p55 was expressed in mouse outer hair cells in long stereocilia that made up the stereocilia bundle and in surrounding shorter stereocilia structures. Since p55 and protein 4.1R (EPB41; <a href="/entry/130500">130500</a>) form complexes critical for actin cytoskeletal assembly in erythrocytes, <a href="#7" class="mim-tip-reference" title="Mburu, P., Kikkawa, Y., Townsend, S., Romero, R., Yonekawa, H., Brown, S. D. M. <strong>Whirlin complexes with p55 at the stereocilia tip during hair cell development.</strong> Proc. Nat. Acad. Sci. 103: 10973-10978, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16829577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16829577</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16829577[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.0600923103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16829577">Mburu et al. (2006)</a> proposed that p55 and whirlin may have a similar role in hair cell stereocilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16829577" 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 immunohistochemical analysis, <a href="#12" class="mim-tip-reference" title="van Wijk, E., van der Zwaag, B., Peters, T., Zimmermann, U., te Brinke, H., Kersten, F. F. J., Marker, T., Aller, E., Hoefsloot, L. H., Cremers, C. W. R. J., Cremers, F. P. M., Wolfrum, U., Knipper, M., Roepman, R., Kremer, H. <strong>The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.</strong> Hum. Molec. Genet. 15: 751-765, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16434480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16434480</a>] [<a href="https://doi.org/10.1093/hmg/ddi490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16434480">van Wijk et al. (2006)</a> showed that whirlin colocalized with Ush2a isoform B (<a href="/entry/608400">608400</a>) and Vlgr1b (<a href="/entry/602851">602851</a>) in synaptic regions of photoreceptor cells in adult rat retina and outer hair cells of adult rat cochlea. <a href="#12" class="mim-tip-reference" title="van Wijk, E., van der Zwaag, B., Peters, T., Zimmermann, U., te Brinke, H., Kersten, F. F. J., Marker, T., Aller, E., Hoefsloot, L. H., Cremers, C. W. R. J., Cremers, F. P. M., Wolfrum, U., Knipper, M., Roepman, R., Kremer, H. <strong>The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.</strong> Hum. Molec. Genet. 15: 751-765, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16434480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16434480</a>] [<a href="https://doi.org/10.1093/hmg/ddi490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16434480">Van Wijk et al. (2006)</a> hypothesized that whirlin is part of a macromolecular PDZ protein scaffold that functions in the organization of photoreceptor and hair cell synapses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16434480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using yeast 2-hybrid analysis, <a href="#6" class="mim-tip-reference" title="Maerker, T., van Wijk, E., Overlack, N., Kersten, F. F. J., McGee, J., Goldmann, T., Sehn, E., Roepman, R., Walsh, E. J., Kremer, H., Wolfrum, U. <strong>A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.</strong> Hum. Molec. Genet. 17: 71-86, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17906286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17906286</a>] [<a href="https://doi.org/10.1093/hmg/ddm285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17906286">Maerker et al. (2008)</a> found that the C terminus of human SANS (USH1G; <a href="/entry/607696">607696</a>) interacted with the N-terminal region of whirlin in a bovine retina cDNA library. In mouse retina, both proteins colocalized at synapses in the outer plexiform layer and in the outer limiting membrane, the inner segment, and the ciliary region of photoreceptor cells. Within the ciliary region, high resolution analysis revealed that Sans and whirlin colocalized in the connecting cilium and basal body complex. <a href="#6" class="mim-tip-reference" title="Maerker, T., van Wijk, E., Overlack, N., Kersten, F. F. J., McGee, J., Goldmann, T., Sehn, E., Roepman, R., Walsh, E. J., Kremer, H., Wolfrum, U. <strong>A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.</strong> Hum. Molec. Genet. 17: 71-86, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17906286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17906286</a>] [<a href="https://doi.org/10.1093/hmg/ddm285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17906286">Maerker et al. (2008)</a> showed that Sans provided a link to the microtubule transport machinery, whereas whirlin appeared to anchor 2 retinal transmembrane proteins, Ush2a isoform b and Vlgr1b, to specific membrane domains. <a href="#6" class="mim-tip-reference" title="Maerker, T., van Wijk, E., Overlack, N., Kersten, F. F. J., McGee, J., Goldmann, T., Sehn, E., Roepman, R., Walsh, E. J., Kremer, H., Wolfrum, U. <strong>A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.</strong> Hum. Molec. Genet. 17: 71-86, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17906286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17906286</a>] [<a href="https://doi.org/10.1093/hmg/ddm285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17906286">Maerker et al. (2008)</a> concluded that this network of proteins may cooperate to regulate cargo transfer from inner segment transport carriers to the ciliary transport system of photoreceptors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17906286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Autosomal Recessive Deafness 31</em></strong></p><p>
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In affected members of a consanguineous multiplex Palestinian family with autosomal recessive nonsyndromic deafness mapping to chromosome 9q32-q34 (DFNB31; <a href="/entry/607084">607084</a>), originally reported by <a href="#9" class="mim-tip-reference" title="Mustapha, M., Chouery, E., Chardenoux, S., Naboulsi, M., Paronnaud, J., Lemainque, A., Megarbane, A., Loiselet, J., Weil, D., Lathrop, M., Petit, C. <strong>DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.</strong> Europ. J. Hum. Genet. 10: 210-212, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11973626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11973626</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11973626">Mustapha et al. (2002)</a>, <a href="#8" class="mim-tip-reference" title="Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R. H., Rump, A., Hardisty, R. E., Blanchard, S., Coimbra, R. S., Perfettini, I., Parkinson, N., and 12 others. <strong>Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.</strong> Nature Genet. 34: 421-428, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12833159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12833159</a>] [<a href="https://doi.org/10.1038/ng1208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12833159">Mburu et al. (2003)</a> identified a homozygous nonsense mutation in the WHRN gene (<a href="#0001">607928.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12833159+11973626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a consanguineous Tunisian family with autosomal recessive nonsyndromic deafness, <a href="#11" class="mim-tip-reference" title="Tlili, A., Charfedine, I., Lahmar, I., Benzina, Z., Mohamed, B. A., Weil, D., Idriss, N., Drira, M., Masmoudi, S., Ayadi, H. <strong>Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. (Abstract)</strong> Hum. Mutat. 25: 503 only, 2005. Note: Full article online.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15841483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15841483</a>] [<a href="https://doi.org/10.1002/humu.9333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15841483">Tlili et al. (2005)</a> identified a homozygous frameshift mutation in the WHRN gene (<a href="#0006">607928.0006</a>) that segregated with the phenotype in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15841483" 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>Usher Syndrome Type IID</em></strong></p><p>
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In 2 German sibs with mild congenital hearing loss, retinitis pigmentosa, and no vestibular dysfunction (USH2D; <a href="/entry/611383">611383</a>), <a href="#4" class="mim-tip-reference" title="Ebermann, I., Scholl, H. P. N., Issa, P. C., Becirovic, E., Lamprecht, J., Jurklies, B., Millan, J. M., Aller, E., Mitter, D., Bolz, H. <strong>A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.</strong> Hum. Genet. 121: 203-211, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17171570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17171570</a>] [<a href="https://doi.org/10.1007/s00439-006-0304-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17171570">Ebermann et al. (2007)</a> identified compound heterozygosity for a nonsense (<a href="#0002">607928.0002</a>) and a splice site mutation (<a href="#0003">607928.0003</a>) in the WHRN gene. The authors noted that whereas mutations affecting the C-terminal half of whirlin have been reported in patients with nonsyndromic deafness (DFNB31), the alterations identified in this USH2 family both affect the long isoform of whirlin, suggesting that it is crucial for retinal function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17171570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 of 31 French USH2 patients who were not linked to the USH2A locus (<a href="/entry/608400">608400</a>), <a href="#2" class="mim-tip-reference" title="Besnard, T., Vache, C., Baux, D., Larrieu, L., Abadie, C., Blanchet, C., Odent, S., Blanchet, P., Calvas, P., Hamel, C., Dollfus, H., Lina-Granade, G., Lespinasse, J., David, A., Isidor, B., Morin, G., Malcolm, S., Tuffery-Giraud, S., Claustres, M., Roux, A.-F. <strong>Non-USH2A mutations in USH2 patients.</strong> Hum. Mutat. 33: 504-510, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22147658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22147658</a>] [<a href="https://doi.org/10.1002/humu.22004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22147658">Besnard et al. (2012)</a> identified homozygosity and compound heterozygosity for WHRN mutations, respectively (<a href="#0004">607928.0004</a>; <a href="#0005">607928.0005</a>). <a href="#2" class="mim-tip-reference" title="Besnard, T., Vache, C., Baux, D., Larrieu, L., Abadie, C., Blanchet, C., Odent, S., Blanchet, P., Calvas, P., Hamel, C., Dollfus, H., Lina-Granade, G., Lespinasse, J., David, A., Isidor, B., Morin, G., Malcolm, S., Tuffery-Giraud, S., Claustres, M., Roux, A.-F. <strong>Non-USH2A mutations in USH2 patients.</strong> Hum. Mutat. 33: 504-510, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22147658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22147658</a>] [<a href="https://doi.org/10.1002/humu.22004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22147658">Besnard et al. (2012)</a> concluded that WHRN mutations account for a very small proportion of mutations causing USH2 (1.3%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22147658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The 'whirler' mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in the organ of Corti of the inner ear indicated that the whirler gene encodes a protein involved in the elongation and maintenance of stereocilia in both inner hair and outer hair cells. By BAC-mediated transgene correction of the mouse phenotype and mutation analysis, <a href="#8" class="mim-tip-reference" title="Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R. H., Rump, A., Hardisty, R. E., Blanchard, S., Coimbra, R. S., Perfettini, I., Parkinson, N., and 12 others. <strong>Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.</strong> Nature Genet. 34: 421-428, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12833159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12833159</a>] [<a href="https://doi.org/10.1038/ng1208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12833159">Mburu et al. (2003)</a> identified the causative gene as encoding a PDZ protein they designated whirlin. They found that the same gene is mutant in the human autosomal recessive deafness locus DFNB31. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12833159" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>6 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607928[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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<strong>.0001 DEAFNESS, AUTOSOMAL RECESSIVE 31</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> rs137852839 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852839;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/rs137852839?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=rs137852839" 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=rs137852839" 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=RCV000002808 OR RCV001851590 OR RCV003226155" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002808, RCV001851590, RCV003226155" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002808...</a>
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<p>In affected members of a consanguineous Palestinian family with autosomal recessive nonsyndromic deafness mapping to chromosome 9q32-q34 (DFNB31; <a href="/entry/607084">607084</a>), originally described by <a href="#9" class="mim-tip-reference" title="Mustapha, M., Chouery, E., Chardenoux, S., Naboulsi, M., Paronnaud, J., Lemainque, A., Megarbane, A., Loiselet, J., Weil, D., Lathrop, M., Petit, C. <strong>DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.</strong> Europ. J. Hum. Genet. 10: 210-212, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11973626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11973626</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11973626">Mustapha et al. (2002)</a>, <a href="#8" class="mim-tip-reference" title="Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R. H., Rump, A., Hardisty, R. E., Blanchard, S., Coimbra, R. S., Perfettini, I., Parkinson, N., and 12 others. <strong>Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.</strong> Nature Genet. 34: 421-428, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12833159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12833159</a>] [<a href="https://doi.org/10.1038/ng1208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12833159">Mburu et al. (2003)</a> identified a 2332C-T transition in exon 10 of the WHRN gene, resulting in an arg778-to-ter (R778X) substitution and a truncated protein of 777 amino acids lacking the third PDZ domain. The mutation was present in homozygous state in 6 affected members of the family and was either absent or present in heterozygous state in unaffected members of the family. The mutation was not found in 100 unrelated Jordanian individuals with normal hearing or in 150 probands from multiplex families with autosomal recessive forms of nonsyndromic deafness, indicating that this is a rare form of deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12833159+11973626" 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> rs137852840 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852840;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/rs137852840?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=rs137852840" 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=rs137852840" 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=RCV000002809" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002809" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002809</a>
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<p>In 2 German sibs with mild congenital hearing loss, retinitis pigmentosa, and no vestibular dysfunction (USH2D; <a href="/entry/611383">611383</a>), <a href="#4" class="mim-tip-reference" title="Ebermann, I., Scholl, H. P. N., Issa, P. C., Becirovic, E., Lamprecht, J., Jurklies, B., Millan, J. M., Aller, E., Mitter, D., Bolz, H. <strong>A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.</strong> Hum. Genet. 121: 203-211, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17171570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17171570</a>] [<a href="https://doi.org/10.1007/s00439-006-0304-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17171570">Ebermann et al. (2007)</a> identified compound heterozygosity for a 307C-T transition in exon 1 of the WHRN gene, resulting in a gln103-to-ter (Q103X) substitution, and a splice site mutation (837+1G-A; <a href="#0003">607928.0003</a>) in the donor site of intron 2, causing in-frame skipping of exon 2. The splice site mutation was predicted to result in an aberrant long isoform of whirlin lacking 73 residues (9 from PDZ1, the 53-residue linker region, and 11 from PDZ2). The mutations were not found in 100 healthy controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17171570" 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">rs2133130286 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2133130286;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=rs2133130286" 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=rs2133130286" 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=RCV000002810" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002810" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002810</a>
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<p>For discussion of the splice site mutation in the WHRN gene (837+1G-A) that was found in compound heterozygous state in 2 sibs with mild congenital hearing loss, retinitis pigmentosa, and no vestibular dysfunction (USH2D; <a href="/entry/611383">611383</a>) by <a href="#4" class="mim-tip-reference" title="Ebermann, I., Scholl, H. P. N., Issa, P. C., Becirovic, E., Lamprecht, J., Jurklies, B., Millan, J. M., Aller, E., Mitter, D., Bolz, H. <strong>A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.</strong> Hum. Genet. 121: 203-211, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17171570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17171570</a>] [<a href="https://doi.org/10.1007/s00439-006-0304-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17171570">Ebermann et al. (2007)</a>, see <a href="#0002">607928.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17171570" 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">rs1589229634 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1589229634;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=rs1589229634" 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=rs1589229634" 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=RCV000024377 OR RCV003556086" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024377, RCV003556086" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024377...</a>
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<p>In a patient with type II Usher syndrome (USH2D; <a href="/entry/611383">611383</a>), <a href="#2" class="mim-tip-reference" title="Besnard, T., Vache, C., Baux, D., Larrieu, L., Abadie, C., Blanchet, C., Odent, S., Blanchet, P., Calvas, P., Hamel, C., Dollfus, H., Lina-Granade, G., Lespinasse, J., David, A., Isidor, B., Morin, G., Malcolm, S., Tuffery-Giraud, S., Claustres, M., Roux, A.-F. <strong>Non-USH2A mutations in USH2 patients.</strong> Hum. Mutat. 33: 504-510, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22147658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22147658</a>] [<a href="https://doi.org/10.1002/humu.22004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22147658">Besnard et al. (2012)</a> identified homozygosity for a 1-bp deletion (737delC) in exon 2 of the WHRN gene, causing a frameshift (Pro246fs) predicted to result in a premature termination codon. In an unrelated USH2 patient, <a href="#2" class="mim-tip-reference" title="Besnard, T., Vache, C., Baux, D., Larrieu, L., Abadie, C., Blanchet, C., Odent, S., Blanchet, P., Calvas, P., Hamel, C., Dollfus, H., Lina-Granade, G., Lespinasse, J., David, A., Isidor, B., Morin, G., Malcolm, S., Tuffery-Giraud, S., Claustres, M., Roux, A.-F. <strong>Non-USH2A mutations in USH2 patients.</strong> Hum. Mutat. 33: 504-510, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22147658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22147658</a>] [<a href="https://doi.org/10.1002/humu.22004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22147658">Besnard et al. (2012)</a> identified compound heterozygosity for 737delC and a 1-bp duplication (680dupG; <a href="#0005">607928.0005</a>) in exon 2 of the WHRN gene, also causing a frameshift (Tyr228fs) predicted to result in premature termination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22147658" 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 USHER SYNDROME, TYPE IID</strong>
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DFNB31, 1-BP DUP, 680G
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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> rs1306987034 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1306987034;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/rs1306987034?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=rs1306987034" 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=rs1306987034" 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=RCV000024378 OR RCV001852569" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024378, RCV001852569" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024378...</a>
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<p>For discussion of the 1-bp duplication (680dupG) in the WHRN gene that was found in compound heterozygous state in a patient with type II Usher syndrome (USH2D; <a href="/entry/611383">611383</a>) by <a href="#2" class="mim-tip-reference" title="Besnard, T., Vache, C., Baux, D., Larrieu, L., Abadie, C., Blanchet, C., Odent, S., Blanchet, P., Calvas, P., Hamel, C., Dollfus, H., Lina-Granade, G., Lespinasse, J., David, A., Isidor, B., Morin, G., Malcolm, S., Tuffery-Giraud, S., Claustres, M., Roux, A.-F. <strong>Non-USH2A mutations in USH2 patients.</strong> Hum. Mutat. 33: 504-510, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22147658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22147658</a>] [<a href="https://doi.org/10.1002/humu.22004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22147658">Besnard et al. (2012)</a>, see <a href="#0004">607928.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22147658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 DEAFNESS, AUTOSOMAL RECESSIVE 31</strong>
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DFNB31, 1-BP DEL, 2423G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs869320674 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869320674;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=rs869320674" 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=rs869320674" 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=RCV000190401" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190401" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190401</a>
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<p>By mutation screening of the WHRN gene in affected members of a Tunisian family with autosomal recessive nonsyndromic deafness showing linkage to the DFNB31 (<a href="/entry/607084">607084</a>) region, <a href="#11" class="mim-tip-reference" title="Tlili, A., Charfedine, I., Lahmar, I., Benzina, Z., Mohamed, B. A., Weil, D., Idriss, N., Drira, M., Masmoudi, S., Ayadi, H. <strong>Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. (Abstract)</strong> Hum. Mutat. 25: 503 only, 2005. Note: Full article online.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15841483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15841483</a>] [<a href="https://doi.org/10.1002/humu.9333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15841483">Tlili et al. (2005)</a> identified homozygosity for a 1-bp deletion (c.2423delG, NM_015404.1), producing a frameshift and resulting in a premature stop codon (Gly808AspfsTer11 in the long isoform; Gly457AspfsTer11 in the short isoform). The deletion was found in heterozygous state in the unaffected parents and an unaffected sib. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15841483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Belyantseva2005" class="mim-anchor"></a>
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Belyantseva, I. A., Boger, E. T., Naz, S., Frolenkov, G. I., Sellers, J. R., Ahmed, Z. M., Griffith, A. J., Friedman, T. B.
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<strong>Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.</strong>
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Nature Cell Biol. 7: 148-156, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15654330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15654330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15654330" 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/ncb1219" target="_blank">Full Text</a>]
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<a id="Besnard2012" class="mim-anchor"></a>
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Besnard, T., Vache, C., Baux, D., Larrieu, L., Abadie, C., Blanchet, C., Odent, S., Blanchet, P., Calvas, P., Hamel, C., Dollfus, H., Lina-Granade, G., Lespinasse, J., David, A., Isidor, B., Morin, G., Malcolm, S., Tuffery-Giraud, S., Claustres, M., Roux, A.-F.
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<strong>Non-USH2A mutations in USH2 patients.</strong>
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Hum. Mutat. 33: 504-510, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22147658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22147658</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22147658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22004" target="_blank">Full Text</a>]
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<a id="Delprat2005" class="mim-anchor"></a>
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Delprat, B., Michel, V., Goodyear, R., Yamasaki, Y., Michalski, N., El-Amraoui, A., Perfettini, I., Legrain, P., Richardson, G., Hardelin, J.-P., Petit, C.
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<strong>Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly.</strong>
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Hum. Molec. Genet. 14: 401-410, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15590698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15590698</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15590698" 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/ddi036" target="_blank">Full Text</a>]
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<a id="Ebermann2007" class="mim-anchor"></a>
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Ebermann, I., Scholl, H. P. N., Issa, P. C., Becirovic, E., Lamprecht, J., Jurklies, B., Millan, J. M., Aller, E., Mitter, D., Bolz, H.
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<strong>A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.</strong>
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Hum. Genet. 121: 203-211, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17171570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17171570</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17171570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-006-0304-0" target="_blank">Full Text</a>]
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<a id="Kikkawa2005" class="mim-anchor"></a>
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Kikkawa, Y., Mburu, P., Morse, S., Kominami, R., Townsend, S., Brown, S. D. M.
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<strong>Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium.</strong>
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Hum. Molec. Genet. 14: 391-400, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15590699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15590699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15590699" 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/ddi035" target="_blank">Full Text</a>]
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<a id="Maerker2008" class="mim-anchor"></a>
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Maerker, T., van Wijk, E., Overlack, N., Kersten, F. F. J., McGee, J., Goldmann, T., Sehn, E., Roepman, R., Walsh, E. J., Kremer, H., Wolfrum, U.
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<strong>A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.</strong>
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Hum. Molec. Genet. 17: 71-86, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17906286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17906286</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17906286" 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/ddm285" target="_blank">Full Text</a>]
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<a id="Mburu2006" class="mim-anchor"></a>
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Mburu, P., Kikkawa, Y., Townsend, S., Romero, R., Yonekawa, H., Brown, S. D. M.
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<strong>Whirlin complexes with p55 at the stereocilia tip during hair cell development.</strong>
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Proc. Nat. Acad. Sci. 103: 10973-10978, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16829577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16829577</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16829577[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=16829577" 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.0600923103" target="_blank">Full Text</a>]
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<a id="Mburu2003" class="mim-anchor"></a>
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Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R. H., Rump, A., Hardisty, R. E., Blanchard, S., Coimbra, R. S., Perfettini, I., Parkinson, N., and 12 others.
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<strong>Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.</strong>
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Nature Genet. 34: 421-428, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12833159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12833159</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12833159" 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/ng1208" target="_blank">Full Text</a>]
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<a id="Mustapha2002" class="mim-anchor"></a>
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Mustapha, M., Chouery, E., Chardenoux, S., Naboulsi, M., Paronnaud, J., Lemainque, A., Megarbane, A., Loiselet, J., Weil, D., Lathrop, M., Petit, C.
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<strong>DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.</strong>
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Europ. J. Hum. Genet. 10: 210-212, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11973626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11973626</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11973626" 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.5200780" target="_blank">Full Text</a>]
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<a id="Nagase2000" class="mim-anchor"></a>
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Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 7: 143-150, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10819331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10819331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10819331" 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/dnares/7.2.143" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Tlili2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tlili, A., Charfedine, I., Lahmar, I., Benzina, Z., Mohamed, B. A., Weil, D., Idriss, N., Drira, M., Masmoudi, S., Ayadi, H.
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<strong>Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. (Abstract)</strong>
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Hum. Mutat. 25: 503 only, 2005. Note: Full article online.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15841483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15841483</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15841483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.9333" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="van Wijk2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Wijk, E., van der Zwaag, B., Peters, T., Zimmermann, U., te Brinke, H., Kersten, F. F. J., Marker, T., Aller, E., Hoefsloot, L. H., Cremers, C. W. R. J., Cremers, F. P. M., Wolfrum, U., Knipper, M., Roepman, R., Kremer, H.
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<strong>The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.</strong>
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Hum. Molec. Genet. 15: 751-765, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16434480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16434480</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16434480" 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/ddi490" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Yap2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yap, C. C., Liang, F., Yamazaki, Y., Muto, Y., Kishida, H., Hayashida, T., Hashikawa, T., Yano, R.
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<strong>CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase.</strong>
|
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J. Neurochem. 85: 123-134, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12641734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12641734</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12641734" 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/10.1046/j.1471-4159.2003.01647.x" target="_blank">Full Text</a>]
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</p>
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</ol>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 08/14/2015
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 6/8/2012<br>Patricia A. Hartz - updated : 11/11/2009<br>Patricia A. Hartz - updated : 9/21/2009<br>George E. Tiller - updated : 12/11/2007<br>Marla J. F. O'Neill - updated : 8/21/2007<br>Patricia A. Hartz - updated : 10/3/2006<br>Patricia A. Hartz - updated : 5/20/2005<br>Victor A. McKusick - updated : 7/2/2003
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</span>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 6/27/2003
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/11/2016
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/14/2015<br>carol : 8/13/2015<br>mcolton : 8/12/2015<br>terry : 6/8/2012<br>terry : 4/12/2012<br>alopez : 9/16/2011<br>terry : 9/9/2010<br>mgross : 11/16/2009<br>terry : 11/11/2009<br>mgross : 10/2/2009<br>terry : 9/21/2009<br>wwang : 12/28/2007<br>terry : 12/11/2007<br>wwang : 8/27/2007<br>terry : 8/21/2007<br>mgross : 10/5/2006<br>mgross : 10/5/2006<br>terry : 10/3/2006<br>wwang : 5/20/2005<br>alopez : 9/2/2003<br>alopez : 7/2/2003<br>terry : 7/2/2003<br>mgross : 6/30/2003
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</span>
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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>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 607928
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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WHIRLIN; WHRN
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CASK-INTERACTING PROTEIN, 98-KD; CIP98<br />
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KIAA1526
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</span>
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</h4>
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<div>
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<br />
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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: WHRN</em></strong>
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</span>
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</p>
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</div>
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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: 9q32
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:114,402,080-114,505,473 </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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<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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9q32
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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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Deafness, autosomal recessive 31
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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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607084
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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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<td>
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<span class="mim-font">
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Usher syndrome, type 2D
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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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611383
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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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<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>In rat brain, Whrn, or Cip98, interacts with a calmodulin-dependent serine kinase, Cask (300172), and may be involved in the formation of scaffolding protein complexes that facilitate synaptic transmission in the central nervous system (Yap et al., 2003). </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>By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (2000) cloned CIP98, which they designated KIAA1526. The deduced protein contains 963 amino acids. RT-PCR ELISA detected restricted expression of CIP98. Moderate levels were detected in adult and fetal whole brain, followed by adult pancreas, spleen, testis, and ovary. Low expression was detected in adult lung and liver and in fetal liver, and little to no expression was detected in heart, skeletal muscle, and kidney. Examination of specific brain regions revealed strong expression in amygdala, corpus callosum, and substantia nigra, and moderate expression in all other specific brain regions examined. </p><p>Yap et al. (2003) cloned rat Cip98. The deduced 920-amino acid protein contains 3 PDZ domains and a proline-rich region that separates PDZ2 from PDZ3, which is located at the C terminus. In situ hybridization and immunohistochemical staining demonstrated that Cip98 was expressed in certain neurons, including pyramidal cells in layers III to V of the cerebral cortex, projecting neurons in the thalamus, and interneurons in the cerebellum. Cip98 localized to both dendrites and axons. Cip98 showed an apparent molecular mass of 98 kD by Western blot analysis of rat brain lysates. </p><p>Mburu et al. (2003) demonstrated that the human WHRN gene is alternatively spliced to form a long and a short transcript. Northern blot analysis identified 2 transcripts of approximately 1.8 kb and 4 kb in liver and testis and a single 4-kb transcript in kidney, brain, heart, and lung. A strong Kozak sequence in both mouse and human exon 6 identified the putative ATG start of the short C-terminal transcript and predicted a protein of 465 amino acids with a molecular mass of 49.3 kD. In exon 1, the translation initiation site was identified by a Kozak consensus sequence preceded by an in-frame stop codon located 153 kb upstream. The deduced protein of 906 amino acids (441 amino acids longer than the short C-terminal isoform) has a molecular mass of 97.3 kD. The sequence of the encoded protein showed that the short C-terminal isoform contains 1 PDZ domain and 1 proline-rich domain, whereas the long isoform is composed of 3 PDZ domains and 1 proline-rich domain. The proline-rich domain located between the PDZ2 and PDZ3 domains contains several short stretches of polyproline. Mburu et al. (2003) found that the amino acid sequences of mouse and human WHRN are 88% identical across the entire coding sequence but 94.4% in the PDZ domains. The most closely homologous human protein was found to be harmonin (605242), with which whirlin shared 65% similarity in their 3 PDZ domains. </p><p>Belyantseva et al. (2005) identified 10 splice variants of mouse Whrn that were predicted to encode proteins ranging from 156 to 918 amino acids. </p>
|
|
</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>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>Mburu et al. (2003) demonstrated that the human WHRN gene contains 12 exons. The short C-terminal isoform is encoded by 8 exons. </p>
|
|
</span>
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</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 radiation hybrid analysis, Nagase et al. (2000) mapped the WHRN gene to chromosome 9. </p>
|
|
</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>Yap et al. (2003) determined that rat Cip98 interacted with Cask, a member of the membrane-associated guanylate kinase (MAGUK) family that organizes proteins at synapses. Cip98 colocalized with Cask along the dendritic processes of neurons. </p><p>By immunolocalization, Kikkawa et al. (2005) showed that whirlin localized to the tips of mouse stereocilia. Expression of whirlin was dynamic during stereocilia growth, demonstrating an ordered appearance and fade-out across the stereocilia rows and revealing a molecular gradation process starting with the taller stereocilia and traversing to the shorter stereocilia. Fade-out of whirlin in inner hair cells preceded that of outer hair cells, consistent with the earlier maturation of inner hair cell stereocilia. In myosin XVa (MYO15A; 602666) mutants in which stereocilia were shortened, whirlin expression in stereocilia tips was stalled and fade-out was accelerated. In whirlin mutants, myosin XVa was still expressed in stereocilia, but its appearance at the stereocilia tip was delayed. Kikkawa et al. (2005) concluded that whirlin expression is a critical and dynamic organizer for stereocilia elongation and actin polymerization. </p><p>Belyantseva et al. (2005) determined that the C-terminal PDZ ligand of mouse Myo15a interacted with the third PDZ domain of whirlin, and this interaction was required for the targeting of whirlin to the tips of stereocilia. Reintroduction of Myo15a into hair cells of Myo15a-deficient mice restored the recruitment of endogenous whirlin to the tips of stereocilia. Belyantseva et al. (2005) concluded that the interaction of MYO15A with whirlin is a key event in hair bundle morphogenesis. </p><p>Delprat et al. (2005) showed that the myosin XVa SH3-MyTH4 region bound to the short isoform of whirlin, whereas the C-terminal MyTH4-FERM region of myosin XVa bound to the PDZ1 and PDZ2 domains of the long whirlin isoform. The transmembrane netrin-G1 ligand (NGL1; 608817) bound to the PDZ1 and PDZ2 domains of whirlin. Delprat et al. (2005) hypothesized that interaction between whirlin and NGL1 may be involved in the stabilization of interstereociliar links. </p><p>By yeast 2-hybrid analysis of a mouse embryo cDNA library, Mburu et al. (2006) found that whirlin interacted with p55 (MPP1; 305360), a member of the MAGUK family. p55 was expressed in mouse outer hair cells in long stereocilia that made up the stereocilia bundle and in surrounding shorter stereocilia structures. Since p55 and protein 4.1R (EPB41; 130500) form complexes critical for actin cytoskeletal assembly in erythrocytes, Mburu et al. (2006) proposed that p55 and whirlin may have a similar role in hair cell stereocilia. </p><p>Using immunohistochemical analysis, van Wijk et al. (2006) showed that whirlin colocalized with Ush2a isoform B (608400) and Vlgr1b (602851) in synaptic regions of photoreceptor cells in adult rat retina and outer hair cells of adult rat cochlea. Van Wijk et al. (2006) hypothesized that whirlin is part of a macromolecular PDZ protein scaffold that functions in the organization of photoreceptor and hair cell synapses. </p><p>Using yeast 2-hybrid analysis, Maerker et al. (2008) found that the C terminus of human SANS (USH1G; 607696) interacted with the N-terminal region of whirlin in a bovine retina cDNA library. In mouse retina, both proteins colocalized at synapses in the outer plexiform layer and in the outer limiting membrane, the inner segment, and the ciliary region of photoreceptor cells. Within the ciliary region, high resolution analysis revealed that Sans and whirlin colocalized in the connecting cilium and basal body complex. Maerker et al. (2008) showed that Sans provided a link to the microtubule transport machinery, whereas whirlin appeared to anchor 2 retinal transmembrane proteins, Ush2a isoform b and Vlgr1b, to specific membrane domains. Maerker et al. (2008) concluded that this network of proteins may cooperate to regulate cargo transfer from inner segment transport carriers to the ciliary transport system of photoreceptors. </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>Autosomal Recessive Deafness 31</em></strong></p><p>
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In affected members of a consanguineous multiplex Palestinian family with autosomal recessive nonsyndromic deafness mapping to chromosome 9q32-q34 (DFNB31; 607084), originally reported by Mustapha et al. (2002), Mburu et al. (2003) identified a homozygous nonsense mutation in the WHRN gene (607928.0001). </p><p>In affected members of a consanguineous Tunisian family with autosomal recessive nonsyndromic deafness, Tlili et al. (2005) identified a homozygous frameshift mutation in the WHRN gene (607928.0006) that segregated with the phenotype in the family. </p><p><strong><em>Usher Syndrome Type IID</em></strong></p><p>
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In 2 German sibs with mild congenital hearing loss, retinitis pigmentosa, and no vestibular dysfunction (USH2D; 611383), Ebermann et al. (2007) identified compound heterozygosity for a nonsense (607928.0002) and a splice site mutation (607928.0003) in the WHRN gene. The authors noted that whereas mutations affecting the C-terminal half of whirlin have been reported in patients with nonsyndromic deafness (DFNB31), the alterations identified in this USH2 family both affect the long isoform of whirlin, suggesting that it is crucial for retinal function. </p><p>In 2 of 31 French USH2 patients who were not linked to the USH2A locus (608400), Besnard et al. (2012) identified homozygosity and compound heterozygosity for WHRN mutations, respectively (607928.0004; 607928.0005). Besnard et al. (2012) concluded that WHRN mutations account for a very small proportion of mutations causing USH2 (1.3%). </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>The 'whirler' mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in the organ of Corti of the inner ear indicated that the whirler gene encodes a protein involved in the elongation and maintenance of stereocilia in both inner hair and outer hair cells. By BAC-mediated transgene correction of the mouse phenotype and mutation analysis, Mburu et al. (2003) identified the causative gene as encoding a PDZ protein they designated whirlin. They found that the same gene is mutant in the human autosomal recessive deafness locus DFNB31. </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>6 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 DEAFNESS, AUTOSOMAL RECESSIVE 31</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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DFNB31, ARG778TER
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<br />
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SNP: rs137852839,
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gnomAD: rs137852839,
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ClinVar: RCV000002808, RCV001851590, RCV003226155
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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 consanguineous Palestinian family with autosomal recessive nonsyndromic deafness mapping to chromosome 9q32-q34 (DFNB31; 607084), originally described by Mustapha et al. (2002), Mburu et al. (2003) identified a 2332C-T transition in exon 10 of the WHRN gene, resulting in an arg778-to-ter (R778X) substitution and a truncated protein of 777 amino acids lacking the third PDZ domain. The mutation was present in homozygous state in 6 affected members of the family and was either absent or present in heterozygous state in unaffected members of the family. The mutation was not found in 100 unrelated Jordanian individuals with normal hearing or in 150 probands from multiplex families with autosomal recessive forms of nonsyndromic deafness, indicating that this is a rare form of deafness. </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 USHER SYNDROME, TYPE IID</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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DFNB31, GLN103TER
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<br />
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SNP: rs137852840,
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gnomAD: rs137852840,
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ClinVar: RCV000002809
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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 German sibs with mild congenital hearing loss, retinitis pigmentosa, and no vestibular dysfunction (USH2D; 611383), Ebermann et al. (2007) identified compound heterozygosity for a 307C-T transition in exon 1 of the WHRN gene, resulting in a gln103-to-ter (Q103X) substitution, and a splice site mutation (837+1G-A; 607928.0003) in the donor site of intron 2, causing in-frame skipping of exon 2. The splice site mutation was predicted to result in an aberrant long isoform of whirlin lacking 73 residues (9 from PDZ1, the 53-residue linker region, and 11 from PDZ2). The mutations were not found in 100 healthy controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 USHER SYNDROME, TYPE IID</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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DFNB31, IVS2DS, G-A, +1
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<br />
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SNP: rs2133130286,
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ClinVar: RCV000002810
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the splice site mutation in the WHRN gene (837+1G-A) that was found in compound heterozygous state in 2 sibs with mild congenital hearing loss, retinitis pigmentosa, and no vestibular dysfunction (USH2D; 611383) by Ebermann et al. (2007), see 607928.0002. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 USHER SYNDROME, TYPE IID</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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DFNB31, 1-BP DEL, 737C
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<br />
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SNP: rs1589229634,
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ClinVar: RCV000024377, RCV003556086
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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 type II Usher syndrome (USH2D; 611383), Besnard et al. (2012) identified homozygosity for a 1-bp deletion (737delC) in exon 2 of the WHRN gene, causing a frameshift (Pro246fs) predicted to result in a premature termination codon. In an unrelated USH2 patient, Besnard et al. (2012) identified compound heterozygosity for 737delC and a 1-bp duplication (680dupG; 607928.0005) in exon 2 of the WHRN gene, also causing a frameshift (Tyr228fs) predicted to result in premature termination. </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>.0005 USHER SYNDROME, TYPE IID</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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DFNB31, 1-BP DUP, 680G
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|
<br />
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SNP: rs1306987034,
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|
gnomAD: rs1306987034,
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|
|
|
ClinVar: RCV000024378, RCV001852569
|
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp duplication (680dupG) in the WHRN gene that was found in compound heterozygous state in a patient with type II Usher syndrome (USH2D; 611383) by Besnard et al. (2012), see 607928.0004. </p>
|
|
</span>
|
|
</div>
|
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 DEAFNESS, AUTOSOMAL RECESSIVE 31</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
DFNB31, 1-BP DEL, 2423G
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|
|
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|
|
<br />
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|
|
SNP: rs869320674,
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|
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|
|
|
ClinVar: RCV000190401
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>By mutation screening of the WHRN gene in affected members of a Tunisian family with autosomal recessive nonsyndromic deafness showing linkage to the DFNB31 (607084) region, Tlili et al. (2005) identified homozygosity for a 1-bp deletion (c.2423delG, NM_015404.1), producing a frameshift and resulting in a premature stop codon (Gly808AspfsTer11 in the long isoform; Gly457AspfsTer11 in the short isoform). The deletion was found in heterozygous state in the unaffected parents and an unaffected sib. </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
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<p class="mim-text-font">
|
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Belyantseva, I. A., Boger, E. T., Naz, S., Frolenkov, G. I., Sellers, J. R., Ahmed, Z. M., Griffith, A. J., Friedman, T. B.
|
|
<strong>Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.</strong>
|
|
Nature Cell Biol. 7: 148-156, 2005.
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[PubMed: 15654330]
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[Full Text: https://doi.org/10.1038/ncb1219]
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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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Besnard, T., Vache, C., Baux, D., Larrieu, L., Abadie, C., Blanchet, C., Odent, S., Blanchet, P., Calvas, P., Hamel, C., Dollfus, H., Lina-Granade, G., Lespinasse, J., David, A., Isidor, B., Morin, G., Malcolm, S., Tuffery-Giraud, S., Claustres, M., Roux, A.-F.
|
|
<strong>Non-USH2A mutations in USH2 patients.</strong>
|
|
Hum. Mutat. 33: 504-510, 2012.
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[PubMed: 22147658]
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[Full Text: https://doi.org/10.1002/humu.22004]
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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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Delprat, B., Michel, V., Goodyear, R., Yamasaki, Y., Michalski, N., El-Amraoui, A., Perfettini, I., Legrain, P., Richardson, G., Hardelin, J.-P., Petit, C.
|
|
<strong>Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly.</strong>
|
|
Hum. Molec. Genet. 14: 401-410, 2005.
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[PubMed: 15590698]
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[Full Text: https://doi.org/10.1093/hmg/ddi036]
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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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Ebermann, I., Scholl, H. P. N., Issa, P. C., Becirovic, E., Lamprecht, J., Jurklies, B., Millan, J. M., Aller, E., Mitter, D., Bolz, H.
|
|
<strong>A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.</strong>
|
|
Hum. Genet. 121: 203-211, 2007.
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[PubMed: 17171570]
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[Full Text: https://doi.org/10.1007/s00439-006-0304-0]
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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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Kikkawa, Y., Mburu, P., Morse, S., Kominami, R., Townsend, S., Brown, S. D. M.
|
|
<strong>Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium.</strong>
|
|
Hum. Molec. Genet. 14: 391-400, 2005.
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[PubMed: 15590699]
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[Full Text: https://doi.org/10.1093/hmg/ddi035]
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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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Maerker, T., van Wijk, E., Overlack, N., Kersten, F. F. J., McGee, J., Goldmann, T., Sehn, E., Roepman, R., Walsh, E. J., Kremer, H., Wolfrum, U.
|
|
<strong>A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.</strong>
|
|
Hum. Molec. Genet. 17: 71-86, 2008.
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|
[PubMed: 17906286]
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[Full Text: https://doi.org/10.1093/hmg/ddm285]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Mburu, P., Kikkawa, Y., Townsend, S., Romero, R., Yonekawa, H., Brown, S. D. M.
|
|
<strong>Whirlin complexes with p55 at the stereocilia tip during hair cell development.</strong>
|
|
Proc. Nat. Acad. Sci. 103: 10973-10978, 2006.
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|
[PubMed: 16829577]
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[Full Text: https://doi.org/10.1073/pnas.0600923103]
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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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Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R. H., Rump, A., Hardisty, R. E., Blanchard, S., Coimbra, R. S., Perfettini, I., Parkinson, N., and 12 others.
|
|
<strong>Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.</strong>
|
|
Nature Genet. 34: 421-428, 2003.
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[PubMed: 12833159]
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[Full Text: https://doi.org/10.1038/ng1208]
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Mustapha, M., Chouery, E., Chardenoux, S., Naboulsi, M., Paronnaud, J., Lemainque, A., Megarbane, A., Loiselet, J., Weil, D., Lathrop, M., Petit, C.
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<strong>DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.</strong>
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Europ. J. Hum. Genet. 10: 210-212, 2002.
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[PubMed: 11973626]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200780]
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Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 7: 143-150, 2000.
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[PubMed: 10819331]
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[Full Text: https://doi.org/10.1093/dnares/7.2.143]
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Tlili, A., Charfedine, I., Lahmar, I., Benzina, Z., Mohamed, B. A., Weil, D., Idriss, N., Drira, M., Masmoudi, S., Ayadi, H.
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<strong>Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. (Abstract)</strong>
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Hum. Mutat. 25: 503 only, 2005. Note: Full article online.
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[PubMed: 15841483]
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[Full Text: https://doi.org/10.1002/humu.9333]
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van Wijk, E., van der Zwaag, B., Peters, T., Zimmermann, U., te Brinke, H., Kersten, F. F. J., Marker, T., Aller, E., Hoefsloot, L. H., Cremers, C. W. R. J., Cremers, F. P. M., Wolfrum, U., Knipper, M., Roepman, R., Kremer, H.
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<strong>The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.</strong>
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Hum. Molec. Genet. 15: 751-765, 2006.
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[PubMed: 16434480]
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[Full Text: https://doi.org/10.1093/hmg/ddi490]
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Yap, C. C., Liang, F., Yamazaki, Y., Muto, Y., Kishida, H., Hayashida, T., Hashikawa, T., Yano, R.
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<strong>CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase.</strong>
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J. Neurochem. 85: 123-134, 2003.
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[PubMed: 12641734]
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[Full Text: https://doi.org/10.1046/j.1471-4159.2003.01647.x]
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Carol A. Bocchini - updated : 08/14/2015<br>Marla J. F. O'Neill - updated : 6/8/2012<br>Patricia A. Hartz - updated : 11/11/2009<br>Patricia A. Hartz - updated : 9/21/2009<br>George E. Tiller - updated : 12/11/2007<br>Marla J. F. O'Neill - updated : 8/21/2007<br>Patricia A. Hartz - updated : 10/3/2006<br>Patricia A. Hartz - updated : 5/20/2005<br>Victor A. McKusick - updated : 7/2/2003
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Patricia A. Hartz : 6/27/2003
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carol : 10/11/2016<br>carol : 08/14/2015<br>carol : 8/13/2015<br>mcolton : 8/12/2015<br>terry : 6/8/2012<br>terry : 4/12/2012<br>alopez : 9/16/2011<br>terry : 9/9/2010<br>mgross : 11/16/2009<br>terry : 11/11/2009<br>mgross : 10/2/2009<br>terry : 9/21/2009<br>wwang : 12/28/2007<br>terry : 12/11/2007<br>wwang : 8/27/2007<br>terry : 8/21/2007<br>mgross : 10/5/2006<br>mgross : 10/5/2006<br>terry : 10/3/2006<br>wwang : 5/20/2005<br>alopez : 9/2/2003<br>alopez : 7/2/2003<br>terry : 7/2/2003<br>mgross : 6/30/2003
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