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<title>
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Entry
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- *610219 - PEJVAKIN; PJVK
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- OMIM
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*610219</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/610219">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000204311;t=ENST00000644580" 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=494513" 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=610219" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000204311;t=ENST00000644580" 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_001042702,NM_001353775,NM_001353776,NM_001353777,NM_001353778,NM_001369912,XM_017004221,XR_922929" 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_001042702" 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=610219" 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=19162&isoform_id=19162_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/PJVK" 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/86371646,111607457,114152117,118341477,118341710,119631438,223461665,1034614303,1219456080,1219456086,1219456094,1219456106,1624525641,2462573767" 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/Q0ZLH3" 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=494513" 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=ENSG00000204311;t=ENST00000644580" 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=PJVK" 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=PJVK" 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+494513" 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/PJVK" 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:494513" 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/494513" 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=chr2&hgg_gene=ENST00000644580.2&hgg_start=178451378&hgg_end=178462102&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
|
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</span>
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</span>
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</div>
|
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:29502" 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=610219[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=610219[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/ENSG00000204311" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=PJVK" 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=PJVK" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PJVK&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/PA134927047" 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:29502" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2685847" 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/PJVK#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:2685847" 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/494513/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=494513" 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-110411-133" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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|
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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=PJVK&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>
|
|
610219
|
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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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PEJVAKIN; PJVK
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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>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
DFNB59 GENE
|
|
</span>
|
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</h4>
|
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</div>
|
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PJVK" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PJVK</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/2/820?start=-3&limit=10&highlight=820">2q31.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:178451378-178462102&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'})">2:178,451,378-178,462,102</a> </span>
|
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</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>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/820?start=-3&limit=10&highlight=820">
|
|
2q31.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Deafness, autosomal recessive 59
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/610220"> 610220 </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>
|
|
|
|
|
|
</tr>
|
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</tbody>
|
|
</table>
|
|
</div>
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</div>
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<div>
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<div class="btn-group">
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<p><a href="#2" class="mim-tip-reference" title="Delmaghani, S., del Castillo, F. J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., Petit, C. <strong>Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.</strong> Nature Genet. 38: 770-778, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16804542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16804542</a>] [<a href="https://doi.org/10.1038/ng1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16804542">Delmaghani et al. (2006)</a> isolated the complete DFNB59 sequence from a human testis cDNA library and denoted the gene product pejvakin from the Persian word for echo, reflecting the fact that mutations in the gene were found to cause neuronal deafness (DFNB59; <a href="/entry/610220">610220</a>) in 4 Iranian families. The 352-amino acid pejvakin protein shares significant similarity with the DFNA5 (<a href="/entry/608798">608798</a>) protein in the respective N-terminal regions, with 32% identity over a stretch of 250 amino acids. The pejvakin sequence contains a nuclear localization signal (residues 249-258) and a zinc-binding motif (residues 305-331). <a href="#2" class="mim-tip-reference" title="Delmaghani, S., del Castillo, F. J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., Petit, C. <strong>Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.</strong> Nature Genet. 38: 770-778, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16804542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16804542</a>] [<a href="https://doi.org/10.1038/ng1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16804542">Delmaghani et al. (2006)</a> showed that pejvakin belongs to a family of proteins, including DFNA5 and the gasdermins (see GSDMA, <a href="/entry/611218">611218</a>), found only in vertebrates. Immunohistofluorescence microscopy detected pejvakin in the cell bodies of neurons of the afferent auditory pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16804542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Delmaghani, S., del Castillo, F. J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., Petit, C. <strong>Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.</strong> Nature Genet. 38: 770-778, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16804542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16804542</a>] [<a href="https://doi.org/10.1038/ng1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16804542">Delmaghani et al. (2006)</a> found that the DFNB59 gene contains 7 exons spanning 9.8 kb of genomic sequence. Exon organization between the pejvakin and DFNA5 genes throughout the region of similarity is identical, indicating that these 2 genes share a common origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16804542" 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 genomic sequence analysis, <a href="#2" class="mim-tip-reference" title="Delmaghani, S., del Castillo, F. J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., Petit, C. <strong>Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.</strong> Nature Genet. 38: 770-778, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16804542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16804542</a>] [<a href="https://doi.org/10.1038/ng1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16804542">Delmaghani et al. (2006)</a> mapped the DFNB59 gene to chromosome 2q31.1-q31.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16804542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 4 Iranian families with autosomal recessive auditory neuropathy, <a href="#2" class="mim-tip-reference" title="Delmaghani, S., del Castillo, F. J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., Petit, C. <strong>Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.</strong> Nature Genet. 38: 770-778, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16804542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16804542</a>] [<a href="https://doi.org/10.1038/ng1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16804542">Delmaghani et al. (2006)</a> found homozygosity for missense mutations in pejvakin. Three families had an arg183-to-trp substitution (R183W; <a href="#0001">610219.0001</a>), and the fourth a thr54-to-ile substitution (T54I; <a href="#0002">610219.0002</a>). Analyses of sequence conservation and solvent accessibility showed that thr54 is conserved throughout the gene family to which pejvakin belongs and is exposed to solvent, suggesting a functional role. Although arg183 was less well conserved, it was shown to be exposed to solvent. Unlike previously described sensorineural deafness genes, all of which underlie cochlear cell pathologies, DFNB59 was the first human gene implicated in nonsyndromic deafness due to a neuronal defect. Dfnb59 knockin mice homozygous for the R183W mutation showed abnormal auditory brainstem responses indicative of neuronal dysfunction along the auditory pathway. Consideration of audiologic data of Dfnb59 knockin mice and DFNB59 subjects led <a href="#2" class="mim-tip-reference" title="Delmaghani, S., del Castillo, F. J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., Petit, C. <strong>Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.</strong> Nature Genet. 38: 770-778, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16804542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16804542</a>] [<a href="https://doi.org/10.1038/ng1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16804542">Delmaghani et al. (2006)</a> to conclude that pejvakin is essential in the activity of auditory pathway neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16804542" 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>Although the DFNB59 locus is completely contained within the critical interval established for DFNB27 (<a href="/entry/605818">605818</a>), no mutations in pejvakin exons or splice junctions were detected in individuals with DFNB27, suggesting that causative genes in the 2 forms of hearing impairment are distinct.</p><p><a href="#1" class="mim-tip-reference" title="Collin, R. W. J., Kalay, E., Oostrik, J., Caylan, R., Wollnik, B., Arslan, S., den Hollander, A. I., Birinci, Y., Lichtner, P., Strom, T. M., Toraman, B., Hoefsloot, L. H., Cremers, C. W. R. J., Brunner, H. G., Cremers, F. P. M., Karaguzel, A., Kremer, H. <strong>Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.</strong> Hum. Mutat. 28: 718-723, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17373699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17373699</a>] [<a href="https://doi.org/10.1002/humu.20510" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17373699">Collin et al. (2007)</a> identified a homozygous mutation in the DFNB59 gene (<a href="#0004">610219.0004</a>) in 2 Turkish sibs with autosomal recessive nonsyndromic hearing loss. However, screening of 67 additional Turkish probands found the R183W mutation in 1 family, and screening of 83 Dutch patients failed to detect confirmatory mutations, suggesting that mutations in DFNB59 are not a common cause of hearing loss in these populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17373699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large consanguineous Iranian pedigree with progressive hearing loss, <a href="#5" class="mim-tip-reference" title="Schwander, M., Sczaniecka, A., Grillet, N., Bailey, J. S., Avenarius, M., Najmabadi, H., Steffy, B. M., Federe, G. C., Lagler, E. A., Banan, R., Hice, R., Grabowski-Boase, L., Keithley, E. M., Ryan, A. F., Housley, G. D., Wiltshire, T., Smith, R. J. H., Tarantino, L. M., Muller, U. <strong>A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.</strong> J. Neurosci. 27: 2163-2175, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17329413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17329413</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17329413[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.4975-06.2007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17329413">Schwander et al. (2007)</a> identified homozygosity for a 1-bp deletion in the DFNB59 gene (<a href="#0007">610219.0007</a>) in affected individuals; unaffected parents and sibs were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17329413" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a study of mouse lines with auditory defects, <a href="#5" class="mim-tip-reference" title="Schwander, M., Sczaniecka, A., Grillet, N., Bailey, J. S., Avenarius, M., Najmabadi, H., Steffy, B. M., Federe, G. C., Lagler, E. A., Banan, R., Hice, R., Grabowski-Boase, L., Keithley, E. M., Ryan, A. F., Housley, G. D., Wiltshire, T., Smith, R. J. H., Tarantino, L. M., Muller, U. <strong>A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.</strong> J. Neurosci. 27: 2163-2175, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17329413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17329413</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17329413[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.4975-06.2007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17329413">Schwander et al. (2007)</a> analyzed 'sirtaki' mice and identified homozygosity for a point mutation within the gene for pejvakin in all affected mice, with heterozygosity for the mutation in the unaffected parents. The authors noted that in contrast to the Dfnb59 knockin mice studied by <a href="#2" class="mim-tip-reference" title="Delmaghani, S., del Castillo, F. J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., Petit, C. <strong>Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.</strong> Nature Genet. 38: 770-778, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16804542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16804542</a>] [<a href="https://doi.org/10.1038/ng1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16804542">Delmaghani et al. (2006)</a>, which had only an auditory defect, the sirtaki mice displayed both auditory and vestibular defects. <a href="#5" class="mim-tip-reference" title="Schwander, M., Sczaniecka, A., Grillet, N., Bailey, J. S., Avenarius, M., Najmabadi, H., Steffy, B. M., Federe, G. C., Lagler, E. A., Banan, R., Hice, R., Grabowski-Boase, L., Keithley, E. M., Ryan, A. F., Housley, G. D., Wiltshire, T., Smith, R. J. H., Tarantino, L. M., Muller, U. <strong>A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.</strong> J. Neurosci. 27: 2163-2175, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17329413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17329413</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17329413[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.4975-06.2007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17329413">Schwander et al. (2007)</a> suggested that the phenotypic difference might be accounted for by the fact that the missense mutation in the Dfnb59 mice was positioned outside the zinc finger domain, whereas the mutation in the sirtaki mice is predicted to truncate pejvakin before the zinc finger domain. Auditory analysis of the Dfnb59 knockin mice suggested that only afferent auditory neurons were affected, with maintenance of outer hair cell function (<a href="#2" class="mim-tip-reference" title="Delmaghani, S., del Castillo, F. J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., Petit, C. <strong>Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.</strong> Nature Genet. 38: 770-778, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16804542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16804542</a>] [<a href="https://doi.org/10.1038/ng1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16804542">Delmaghani et al., 2006</a>), whereas analysis of the sirtaki mice indicated dysfunction in both. <a href="#5" class="mim-tip-reference" title="Schwander, M., Sczaniecka, A., Grillet, N., Bailey, J. S., Avenarius, M., Najmabadi, H., Steffy, B. M., Federe, G. C., Lagler, E. A., Banan, R., Hice, R., Grabowski-Boase, L., Keithley, E. M., Ryan, A. F., Housley, G. D., Wiltshire, T., Smith, R. J. H., Tarantino, L. M., Muller, U. <strong>A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.</strong> J. Neurosci. 27: 2163-2175, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17329413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17329413</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17329413[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.4975-06.2007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17329413">Schwander et al. (2007)</a> proposed that functional null alleles of pejvakin inactivate its function in both hair cells and neurons, whereas the previously reported missense mutations represent hypomorphic alleles that selectively affect its function only in neurons. In addition, morphology and survival of hair cells and spiral ganglion neurons appeared unaffected, suggesting that pejvakin is important for the function but not development or maintenance of the 2 cell types. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16804542+17329413" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=610219[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs111706634 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111706634;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/rs111706634?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=rs111706634" 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=rs111706634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a consanguineous Iranian family with multiple members affected by nonsyndromic deafness due to a neuronal defect (DFNB59; <a href="/entry/610220">610220</a>) <a href="#2" class="mim-tip-reference" title="Delmaghani, S., del Castillo, F. J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., Petit, C. <strong>Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.</strong> Nature Genet. 38: 770-778, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16804542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16804542</a>] [<a href="https://doi.org/10.1038/ng1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16804542">Delmaghani et al. (2006)</a> found homozygosity for an arg183-to-trp (R183W) substitution in pejvakin that arose from a 547C-T transition in exon 4 of the gene. The same mutation was found in 2 other Iranian families cosegregating a neuronal type of autosomal recessive nonsyndromic deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16804542" 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="Collin, R. W. J., Kalay, E., Oostrik, J., Caylan, R., Wollnik, B., Arslan, S., den Hollander, A. I., Birinci, Y., Lichtner, P., Strom, T. M., Toraman, B., Hoefsloot, L. H., Cremers, C. W. R. J., Brunner, H. G., Cremers, F. P. M., Karaguzel, A., Kremer, H. <strong>Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.</strong> Hum. Mutat. 28: 718-723, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17373699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17373699</a>] [<a href="https://doi.org/10.1002/humu.20510" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17373699">Collin et al. (2007)</a> identified homozygosity for the R183W mutation in 1 of 67 unrelated consanguineous Turkish families with autosomal recessive nonsyndromic hearing loss. Haplotype analysis did not suggest a founder effect for the Turkish and Iranian families with the mutation. In contrast to the Iranian patients reported by <a href="#2" class="mim-tip-reference" title="Delmaghani, S., del Castillo, F. J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., Petit, C. <strong>Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.</strong> Nature Genet. 38: 770-778, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16804542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16804542</a>] [<a href="https://doi.org/10.1038/ng1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16804542">Delmaghani et al. (2006)</a>, <a href="#1" class="mim-tip-reference" title="Collin, R. W. J., Kalay, E., Oostrik, J., Caylan, R., Wollnik, B., Arslan, S., den Hollander, A. I., Birinci, Y., Lichtner, P., Strom, T. M., Toraman, B., Hoefsloot, L. H., Cremers, C. W. R. J., Brunner, H. G., Cremers, F. P. M., Karaguzel, A., Kremer, H. <strong>Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.</strong> Hum. Mutat. 28: 718-723, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17373699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17373699</a>] [<a href="https://doi.org/10.1002/humu.20510" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17373699">Collin et al. (2007)</a> found that transiently evoked otoacoustic emissions (OAE) were absent in the Turkish patients, indicating altered outer hair cell function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16804542+17373699" 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">rs118203988 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203988;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=rs118203988" 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=rs118203988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a single consanguineous Iranian family, <a href="#2" class="mim-tip-reference" title="Delmaghani, S., del Castillo, F. J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., Petit, C. <strong>Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.</strong> Nature Genet. 38: 770-778, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16804542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16804542</a>] [<a href="https://doi.org/10.1038/ng1829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16804542">Delmaghani et al. (2006)</a> found that autosomal recessive nonsyndromic deafness due to a neuronal defect (DFNB59; <a href="/entry/610220">610220</a>) segregated with a homozygous thr54-to-ile (T54I) mutation in pejvakin. The amino acid substitution arose from a 161C-T transition in exon 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16804542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 affected sibs from a consanguineous Moroccan family with autosomal recessive nonsyndromic deafness (<a href="/entry/610220">610220</a>), <a href="#3" class="mim-tip-reference" title="Ebermann, I., Walger, M., Scholl, H. P. N., Issa, P. C., Luke, C., Nurnberg, G., Lang-Roth, R., Becker, C., Nurnberg, P., Bolz, H. J. <strong>Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.</strong> Hum. Mutat. 28: 571-577, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17301963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17301963</a>] [<a href="https://doi.org/10.1002/humu.20478" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17301963">Ebermann et al. (2007)</a> identified a homozygous 1-bp insertion (113insT) in exon 2 of the DFNB59 gene, predicted to result in a truncated protein of 47 amino acids. The hearing loss was progressive, but hearing aids compensated for the deficit in childhood. Audiologic tests excluded auditory neuropathy, and other tests showed impaired central vestibular function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17301963" 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> rs118203989 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203989;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/rs118203989?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=rs118203989" 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=rs118203989" 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=RCV000001363 OR RCV000223480 OR RCV003325448" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001363, RCV000223480, RCV003325448" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001363...</a>
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<p>In 2 affected sibs of a consanguineous Turkish family with nonsyndromic deafness (<a href="/entry/610220">610220</a>), <a href="#1" class="mim-tip-reference" title="Collin, R. W. J., Kalay, E., Oostrik, J., Caylan, R., Wollnik, B., Arslan, S., den Hollander, A. I., Birinci, Y., Lichtner, P., Strom, T. M., Toraman, B., Hoefsloot, L. H., Cremers, C. W. R. J., Brunner, H. G., Cremers, F. P. M., Karaguzel, A., Kremer, H. <strong>Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.</strong> Hum. Mutat. 28: 718-723, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17373699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17373699</a>] [<a href="https://doi.org/10.1002/humu.20510" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17373699">Collin et al. (2007)</a> identified a homozygous 499C-T transition in exon 4 of the DFNB59 gene, resulting in an arg167-to-ter (R167X) substitution and expression of a truncated protein. Transiently evoked otoacoustic emissions (OAE) were absent, indicating altered outer hair cell function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17373699" 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">rs1559371613 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1559371613;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=rs1559371613" 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=rs1559371613" 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=RCV000001364" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001364" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001364</a>
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<p>In affected members of a large consanguineous Iranian family with nonsyndromic deafness (<a href="/entry/610220">610220</a>), <a href="#4" class="mim-tip-reference" title="Hashemzadeh Chaleshtori, M., Simpson, M. A., Farrokhi, E., Dolati, M., Rad, L. H., Geshnigani, S. A., Crosby, A. H. <strong>Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. (Letter)</strong> Clin. Genet. 72: 261-263, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17718865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17718865</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00852.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17718865">Hashemzadeh Chaleshtori et al. (2007)</a> identified a homozygous 1-bp deletion (726delT) in the DFNB59 gene, predicted to result in a frameshift and premature termination at codon 248. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17718865" 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">rs1559372640 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1559372640;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=rs1559372640" 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=rs1559372640" 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=RCV000001365" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001365" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001365</a>
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<p>In affected members of a large consanguineous Iranian family with nonsyndromic deafness (<a href="/entry/610220">610220</a>), <a href="#4" class="mim-tip-reference" title="Hashemzadeh Chaleshtori, M., Simpson, M. A., Farrokhi, E., Dolati, M., Rad, L. H., Geshnigani, S. A., Crosby, A. H. <strong>Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. (Letter)</strong> Clin. Genet. 72: 261-263, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17718865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17718865</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00852.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17718865">Hashemzadeh Chaleshtori et al. (2007)</a> identified a homozygous 1-bp deletion (988delG) in the DFNB59 gene, predicted to result in a frameshift and premature termination at codon 336. Audiologic evaluation showed absent auditory brainstem responses without otoacoustic emissions, suggesting a hearing loss of cochlear origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17718865" 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">rs1559366000 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1559366000;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=rs1559366000" 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=rs1559366000" 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=RCV000001366" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001366" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001366</a>
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<p>In affected members of a large consanguineous Iranian pedigree segregating autosomal recessive progressive hearing loss (<a href="/entry/610220">610220</a>), <a href="#5" class="mim-tip-reference" title="Schwander, M., Sczaniecka, A., Grillet, N., Bailey, J. S., Avenarius, M., Najmabadi, H., Steffy, B. M., Federe, G. C., Lagler, E. A., Banan, R., Hice, R., Grabowski-Boase, L., Keithley, E. M., Ryan, A. F., Housley, G. D., Wiltshire, T., Smith, R. J. H., Tarantino, L. M., Muller, U. <strong>A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.</strong> J. Neurosci. 27: 2163-2175, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17329413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17329413</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17329413[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.4975-06.2007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17329413">Schwander et al. (2007)</a> identified homozygosity for a 1-bp deletion (122delA) in the DFNB59 gene, predicted to result in a premature termination codon at amino acid 58 and likely generating a functionally null protein. Affected children showed moderate to profound deafness that was progressive in nature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17329413" 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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Collin, R. W. J., Kalay, E., Oostrik, J., Caylan, R., Wollnik, B., Arslan, S., den Hollander, A. I., Birinci, Y., Lichtner, P., Strom, T. M., Toraman, B., Hoefsloot, L. H., Cremers, C. W. R. J., Brunner, H. G., Cremers, F. P. M., Karaguzel, A., Kremer, H.
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<strong>Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.</strong>
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Hum. Mutat. 28: 718-723, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17373699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17373699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17373699" 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.20510" target="_blank">Full Text</a>]
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Delmaghani, S., del Castillo, F. J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., Petit, C.
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<strong>Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.</strong>
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Nature Genet. 38: 770-778, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16804542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16804542</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16804542" 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/ng1829" target="_blank">Full Text</a>]
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Ebermann, I., Walger, M., Scholl, H. P. N., Issa, P. C., Luke, C., Nurnberg, G., Lang-Roth, R., Becker, C., Nurnberg, P., Bolz, H. J.
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<strong>Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.</strong>
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Hum. Mutat. 28: 571-577, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17301963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17301963</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17301963" 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.20478" target="_blank">Full Text</a>]
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Hashemzadeh Chaleshtori, M., Simpson, M. A., Farrokhi, E., Dolati, M., Rad, L. H., Geshnigani, S. A., Crosby, A. H.
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<strong>Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. (Letter)</strong>
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Clin. Genet. 72: 261-263, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17718865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17718865</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17718865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2007.00852.x" target="_blank">Full Text</a>]
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Schwander, M., Sczaniecka, A., Grillet, N., Bailey, J. S., Avenarius, M., Najmabadi, H., Steffy, B. M., Federe, G. C., Lagler, E. A., Banan, R., Hice, R., Grabowski-Boase, L., Keithley, E. M., Ryan, A. F., Housley, G. D., Wiltshire, T., Smith, R. J. H., Tarantino, L. M., Muller, U.
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<strong>A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.</strong>
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J. Neurosci. 27: 2163-2175, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17329413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17329413</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17329413[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=17329413" 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/10.1523/JNEUROSCI.4975-06.2007" target="_blank">Full Text</a>]
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</p>
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</li>
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</ol>
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<a id="contributors" class="mim-anchor"></a>
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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>
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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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Marla J. F. O'Neill - updated : 10/13/2009
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/26/2007<br>Cassandra L. Kniffin - updated : 8/20/2007<br>Cassandra L. Kniffin - updated : 7/9/2007
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</span>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/29/2006
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/27/2024
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 12/21/2023<br>carol : 12/23/2019<br>carol : 09/24/2013<br>terry : 11/4/2010<br>terry : 11/3/2010<br>wwang : 10/13/2009<br>terry : 10/13/2009<br>wwang : 11/6/2007<br>ckniffin : 10/26/2007<br>wwang : 9/6/2007<br>ckniffin : 8/20/2007<br>wwang : 7/12/2007<br>ckniffin : 7/9/2007<br>alopez : 6/29/2006
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<h3>
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<span class="mim-font">
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<strong>*</strong> 610219
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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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PEJVAKIN; PJVK
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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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<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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DFNB59 GENE
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</h4>
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</div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PJVK</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 2q31.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:178,451,378-178,462,102 </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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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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2q31.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Deafness, autosomal recessive 59
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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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610220
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Delmaghani et al. (2006) isolated the complete DFNB59 sequence from a human testis cDNA library and denoted the gene product pejvakin from the Persian word for echo, reflecting the fact that mutations in the gene were found to cause neuronal deafness (DFNB59; 610220) in 4 Iranian families. The 352-amino acid pejvakin protein shares significant similarity with the DFNA5 (608798) protein in the respective N-terminal regions, with 32% identity over a stretch of 250 amino acids. The pejvakin sequence contains a nuclear localization signal (residues 249-258) and a zinc-binding motif (residues 305-331). Delmaghani et al. (2006) showed that pejvakin belongs to a family of proteins, including DFNA5 and the gasdermins (see GSDMA, 611218), found only in vertebrates. Immunohistofluorescence microscopy detected pejvakin in the cell bodies of neurons of the afferent auditory pathway. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Delmaghani et al. (2006) found that the DFNB59 gene contains 7 exons spanning 9.8 kb of genomic sequence. Exon organization between the pejvakin and DFNA5 genes throughout the region of similarity is identical, indicating that these 2 genes share a common origin. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Delmaghani et al. (2006) mapped the DFNB59 gene to chromosome 2q31.1-q31.3. </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>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>In affected members of 4 Iranian families with autosomal recessive auditory neuropathy, Delmaghani et al. (2006) found homozygosity for missense mutations in pejvakin. Three families had an arg183-to-trp substitution (R183W; 610219.0001), and the fourth a thr54-to-ile substitution (T54I; 610219.0002). Analyses of sequence conservation and solvent accessibility showed that thr54 is conserved throughout the gene family to which pejvakin belongs and is exposed to solvent, suggesting a functional role. Although arg183 was less well conserved, it was shown to be exposed to solvent. Unlike previously described sensorineural deafness genes, all of which underlie cochlear cell pathologies, DFNB59 was the first human gene implicated in nonsyndromic deafness due to a neuronal defect. Dfnb59 knockin mice homozygous for the R183W mutation showed abnormal auditory brainstem responses indicative of neuronal dysfunction along the auditory pathway. Consideration of audiologic data of Dfnb59 knockin mice and DFNB59 subjects led Delmaghani et al. (2006) to conclude that pejvakin is essential in the activity of auditory pathway neurons. </p><p>Although the DFNB59 locus is completely contained within the critical interval established for DFNB27 (605818), no mutations in pejvakin exons or splice junctions were detected in individuals with DFNB27, suggesting that causative genes in the 2 forms of hearing impairment are distinct.</p><p>Collin et al. (2007) identified a homozygous mutation in the DFNB59 gene (610219.0004) in 2 Turkish sibs with autosomal recessive nonsyndromic hearing loss. However, screening of 67 additional Turkish probands found the R183W mutation in 1 family, and screening of 83 Dutch patients failed to detect confirmatory mutations, suggesting that mutations in DFNB59 are not a common cause of hearing loss in these populations. </p><p>In a large consanguineous Iranian pedigree with progressive hearing loss, Schwander et al. (2007) identified homozygosity for a 1-bp deletion in the DFNB59 gene (610219.0007) in affected individuals; unaffected parents and sibs were heterozygous for the mutation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>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">
|
|
<p>In a study of mouse lines with auditory defects, Schwander et al. (2007) analyzed 'sirtaki' mice and identified homozygosity for a point mutation within the gene for pejvakin in all affected mice, with heterozygosity for the mutation in the unaffected parents. The authors noted that in contrast to the Dfnb59 knockin mice studied by Delmaghani et al. (2006), which had only an auditory defect, the sirtaki mice displayed both auditory and vestibular defects. Schwander et al. (2007) suggested that the phenotypic difference might be accounted for by the fact that the missense mutation in the Dfnb59 mice was positioned outside the zinc finger domain, whereas the mutation in the sirtaki mice is predicted to truncate pejvakin before the zinc finger domain. Auditory analysis of the Dfnb59 knockin mice suggested that only afferent auditory neurons were affected, with maintenance of outer hair cell function (Delmaghani et al., 2006), whereas analysis of the sirtaki mice indicated dysfunction in both. Schwander et al. (2007) proposed that functional null alleles of pejvakin inactivate its function in both hair cells and neurons, whereas the previously reported missense mutations represent hypomorphic alleles that selectively affect its function only in neurons. In addition, morphology and survival of hair cells and spiral ganglion neurons appeared unaffected, suggesting that pejvakin is important for the function but not development or maintenance of the 2 cell types. </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>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 DEAFNESS, AUTOSOMAL RECESSIVE 59</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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PJVK, ARG183TRP
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|
|
<br />
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|
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SNP: rs111706634,
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|
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gnomAD: rs111706634,
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|
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ClinVar: RCV000001360, RCV001268818, RCV001813933
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a consanguineous Iranian family with multiple members affected by nonsyndromic deafness due to a neuronal defect (DFNB59; 610220) Delmaghani et al. (2006) found homozygosity for an arg183-to-trp (R183W) substitution in pejvakin that arose from a 547C-T transition in exon 4 of the gene. The same mutation was found in 2 other Iranian families cosegregating a neuronal type of autosomal recessive nonsyndromic deafness. </p><p>Collin et al. (2007) identified homozygosity for the R183W mutation in 1 of 67 unrelated consanguineous Turkish families with autosomal recessive nonsyndromic hearing loss. Haplotype analysis did not suggest a founder effect for the Turkish and Iranian families with the mutation. In contrast to the Iranian patients reported by Delmaghani et al. (2006), Collin et al. (2007) found that transiently evoked otoacoustic emissions (OAE) were absent in the Turkish patients, indicating altered outer hair cell function. </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>.0002 DEAFNESS, AUTOSOMAL RECESSIVE 59</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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PJVK, THR54ILE
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<br />
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|
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SNP: rs118203988,
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ClinVar: RCV000001361
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a single consanguineous Iranian family, Delmaghani et al. (2006) found that autosomal recessive nonsyndromic deafness due to a neuronal defect (DFNB59; 610220) segregated with a homozygous thr54-to-ile (T54I) mutation in pejvakin. The amino acid substitution arose from a 161C-T transition in exon 2. </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 DEAFNESS, AUTOSOMAL RECESSIVE 59</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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PJVK, 1-BP INS, 113T
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<br />
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SNP: rs1559365985,
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ClinVar: RCV000001362
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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 3 affected sibs from a consanguineous Moroccan family with autosomal recessive nonsyndromic deafness (610220), Ebermann et al. (2007) identified a homozygous 1-bp insertion (113insT) in exon 2 of the DFNB59 gene, predicted to result in a truncated protein of 47 amino acids. The hearing loss was progressive, but hearing aids compensated for the deficit in childhood. Audiologic tests excluded auditory neuropathy, and other tests showed impaired central vestibular function. </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 DEAFNESS, AUTOSOMAL RECESSIVE 59</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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PJVK, ARG167TER
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<br />
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SNP: rs118203989,
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gnomAD: rs118203989,
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ClinVar: RCV000001363, RCV000223480, RCV003325448
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 affected sibs of a consanguineous Turkish family with nonsyndromic deafness (610220), Collin et al. (2007) identified a homozygous 499C-T transition in exon 4 of the DFNB59 gene, resulting in an arg167-to-ter (R167X) substitution and expression of a truncated protein. Transiently evoked otoacoustic emissions (OAE) were absent, indicating altered outer hair cell function. </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>.0005 DEAFNESS, AUTOSOMAL RECESSIVE 59</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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PJVK, 1-BP DEL, 726T
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<br />
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SNP: rs1559371613,
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ClinVar: RCV000001364
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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 large consanguineous Iranian family with nonsyndromic deafness (610220), Hashemzadeh Chaleshtori et al. (2007) identified a homozygous 1-bp deletion (726delT) in the DFNB59 gene, predicted to result in a frameshift and premature termination at codon 248. </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>.0006 DEAFNESS, AUTOSOMAL RECESSIVE 59</strong>
|
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</span>
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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PJVK, 1-BP DEL, 988G
|
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<br />
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SNP: rs1559372640,
|
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ClinVar: RCV000001365
|
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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 large consanguineous Iranian family with nonsyndromic deafness (610220), Hashemzadeh Chaleshtori et al. (2007) identified a homozygous 1-bp deletion (988delG) in the DFNB59 gene, predicted to result in a frameshift and premature termination at codon 336. Audiologic evaluation showed absent auditory brainstem responses without otoacoustic emissions, suggesting a hearing loss of cochlear origin. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0007 DEAFNESS, AUTOSOMAL RECESSIVE 59</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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PJVK, 1-BP DEL, 122A
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<br />
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SNP: rs1559366000,
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ClinVar: RCV000001366
|
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</span>
|
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In affected members of a large consanguineous Iranian pedigree segregating autosomal recessive progressive hearing loss (610220), Schwander et al. (2007) identified homozygosity for a 1-bp deletion (122delA) in the DFNB59 gene, predicted to result in a premature termination codon at amino acid 58 and likely generating a functionally null protein. Affected children showed moderate to profound deafness that was progressive in nature. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<p />
|
|
</div>
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<div>
|
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<ol>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Collin, R. W. J., Kalay, E., Oostrik, J., Caylan, R., Wollnik, B., Arslan, S., den Hollander, A. I., Birinci, Y., Lichtner, P., Strom, T. M., Toraman, B., Hoefsloot, L. H., Cremers, C. W. R. J., Brunner, H. G., Cremers, F. P. M., Karaguzel, A., Kremer, H.
|
|
<strong>Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.</strong>
|
|
Hum. Mutat. 28: 718-723, 2007.
|
|
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|
|
|
[PubMed: 17373699]
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|
|
[Full Text: https://doi.org/10.1002/humu.20510]
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</p>
|
|
</li>
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Delmaghani, S., del Castillo, F. J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., Petit, C.
|
|
<strong>Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.</strong>
|
|
Nature Genet. 38: 770-778, 2006.
|
|
|
|
|
|
[PubMed: 16804542]
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|
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|
|
[Full Text: https://doi.org/10.1038/ng1829]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Ebermann, I., Walger, M., Scholl, H. P. N., Issa, P. C., Luke, C., Nurnberg, G., Lang-Roth, R., Becker, C., Nurnberg, P., Bolz, H. J.
|
|
<strong>Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.</strong>
|
|
Hum. Mutat. 28: 571-577, 2007.
|
|
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|
|
|
[PubMed: 17301963]
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|
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|
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[Full Text: https://doi.org/10.1002/humu.20478]
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</p>
|
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</li>
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Hashemzadeh Chaleshtori, M., Simpson, M. A., Farrokhi, E., Dolati, M., Rad, L. H., Geshnigani, S. A., Crosby, A. H.
|
|
<strong>Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. (Letter)</strong>
|
|
Clin. Genet. 72: 261-263, 2007.
|
|
|
|
|
|
[PubMed: 17718865]
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|
|
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|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00852.x]
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|
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</p>
|
|
</li>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Schwander, M., Sczaniecka, A., Grillet, N., Bailey, J. S., Avenarius, M., Najmabadi, H., Steffy, B. M., Federe, G. C., Lagler, E. A., Banan, R., Hice, R., Grabowski-Boase, L., Keithley, E. M., Ryan, A. F., Housley, G. D., Wiltshire, T., Smith, R. J. H., Tarantino, L. M., Muller, U.
|
|
<strong>A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.</strong>
|
|
J. Neurosci. 27: 2163-2175, 2007.
|
|
|
|
|
|
[PubMed: 17329413]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1523/JNEUROSCI.4975-06.2007]
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|
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|
|
</p>
|
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</li>
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|
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</ol>
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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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Contributors:
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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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Marla J. F. O'Neill - updated : 10/13/2009<br>Cassandra L. Kniffin - updated : 10/26/2007<br>Cassandra L. Kniffin - updated : 8/20/2007<br>Cassandra L. Kniffin - updated : 7/9/2007
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</span>
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</div>
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</div>
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<br />
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<span class="mim-text-font">
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Victor A. McKusick : 6/29/2006
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</span>
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carol : 11/27/2024<br>carol : 12/21/2023<br>carol : 12/23/2019<br>carol : 09/24/2013<br>terry : 11/4/2010<br>terry : 11/3/2010<br>wwang : 10/13/2009<br>terry : 10/13/2009<br>wwang : 11/6/2007<br>ckniffin : 10/26/2007<br>wwang : 9/6/2007<br>ckniffin : 8/20/2007<br>wwang : 7/12/2007<br>ckniffin : 7/9/2007<br>alopez : 6/29/2006
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