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Entry
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- *602851 - ADHESION G PROTEIN-COUPLED RECEPTOR V1; ADGRV1
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- OMIM
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<p>
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<span class="h4">*602851</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/602851">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="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=ENSG00000164199;t=ENST00000405460" 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=84059" 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=602851" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000164199;t=ENST00000405460" 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_032119,NR_003149,XM_017009963,XM_017009964,XM_017009965,XM_017009966,XM_017009967,XM_017009968,XM_017009969,XM_017009970,XM_017009971,XM_017009972,XM_017009973,XM_017009974,XM_047417824,XM_047417825" 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_032119" 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=602851" 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=09111&isoform_id=09111_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/ADGRV1" 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/5902966,16904208,18916732,20521129,50949339,57997060,113722120,119616392,119616393,119616394,119616395,119616396,119616397,119616398,119616399,119616400,193786514,327478512,444733123,1034646477,1034646479,1034646481,1034646483,1034646485,1034646487,1034646489,1034646491,1034646493,1034646495,1034646497,1034646499,2217357650,2217357661,2462604755,2462604757,2462604759,2462604761,2462604763,2462604765,2462604767,2462604769,2462604771,2462604773,2462604775,2462604777,2462604779,2462604781" 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/Q8WXG9" 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=84059" 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=ENSG00000164199;t=ENST00000405460" 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=ADGRV1" 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=ADGRV1" 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+84059" 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/ADGRV1" 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:84059" 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/84059" 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=chr5&hgg_gene=ENST00000405460.9&hgg_start=90558797&hgg_end=91164437&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17416" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:17416" 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=602851[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=602851[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/ADGRV1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000164199" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=ADGRV1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=ADGRV1" 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=ADGRV1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/GPR98" title="Retinal and hearing impairment genetic mutation database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Retinal and hearing impair…</a></div><div style="margin-left: 0.5em;"><a href="https://research.cchmc.org/LOVD2/home.php?select_db=GPR98" title="CCHMC - Human Genetics Mutation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">CCHMC - Human Genetics Mut…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ADGRV1&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/PA134960779" 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:17416" 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:1274784" 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/ADGRV1#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:1274784" 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/84059/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=84059" 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-040624-6" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=ADGRV1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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602851
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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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ADHESION G PROTEIN-COUPLED RECEPTOR V1; ADGRV1
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</span>
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
G PROTEIN-COUPLED RECEPTOR 98; GPR98<br />
|
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MONOGENIC AUDIOGENIC SEIZURE SUSCEPTIBILITY 1, MOUSE, HOMOLOG OF; MASS1<br />
|
|
VERY LARGE G PROTEIN-COUPLED RECEPTOR 1; VLGR1<br />
|
|
KIAA0686
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ADGRV1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ADGRV1</a></em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/5/322?start=-3&limit=10&highlight=322">5q14.3</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:90558797-91164437&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'})">5:90,558,797-91,164,437</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
|
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|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=604352,605472,605472" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
|
</tr>
|
|
</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/322?start=-3&limit=10&highlight=322">
|
|
5q14.3
|
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</a>
|
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</span>
|
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</td>
|
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|
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<td>
|
|
<span class="mim-font">
|
|
?Febrile seizures, familial, 4
|
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|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/604352"> 604352 </a>
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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<p>ADGRV1 is a large G protein-coupled receptor (GPCR) that is expressed ubiquitously and plays important roles in the sensory and central nervous system (CNS). In the inner ear, ADGRV1 and several other proteins form the ankle-link complex (ALC), which is involved in hair-cell development (summary by <a href="#4" class="mim-tip-reference" title="Guan, Y., Du, H. B., Yang, Z., Wang, Y. Z., Ren, R., Liu, W. W., Zhang, C., Zhang, J. H., An, W. T., Li, N. N., Zeng, X. X., Li, J., and 10 others. <strong>Deafness-associated ADGRV1 mutation impairs USH2A stability through improper phosphorylation of WHRN and WDSUB1 recruitment.</strong> Adv. Sci. (Weinh.) 10: e2205993, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37066759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37066759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37066759[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/advs.202205993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37066759">Guan et al., 2023</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37066759" 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 screening for cDNAs with the potential to encode large proteins expressed in brain, <a href="#9" class="mim-tip-reference" title="Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 169-176, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9734811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9734811</a>] [<a href="https://doi.org/10.1093/dnares/5.3.169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9734811">Ishikawa et al. (1998)</a> isolated a partial cDNA encoding GPR98, which they called KIAA0686. The deduced 326-amino acid protein was predicted to be related to rat latrophilin (see NRXN1; <a href="/entry/600565">600565</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9734811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using anchored PCR techniques to extend a cDNA containing sequence for a GPCR transmembrane (TM) segment, followed by RT-PCR and screening of BAC and YAC clones, <a href="#13" class="mim-tip-reference" title="Nikkila, H., McMillan, D. R., Nunez, B. S., Pascoe, L., Curnow, K. M., White, P. C. <strong>Sequence similarities between a novel putative G protein-coupled receptor and Na(+)/Ca(2+) exchangers define a cation binding domain.</strong> Molec. Endocr. 14: 1351-1364, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10976914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10976914</a>] [<a href="https://doi.org/10.1210/mend.14.9.0511" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10976914">Nikkila et al. (2000)</a> isolated a cDNA encoding VLGR1. Sequence analysis predicted that the 1,967-amino acid VLGR1 protein contains an N-terminal signal peptide, 7 putative Na(+)/Ca(2+) exchangers, 21 N-linked glycosylation sites, the TM region, and a C-terminal domain with a palmitoylation site and multiple potential serine phosphorylation sites. Northern blot analysis of adrenal and testis RNA revealed faint expression of fragmented transcripts; no expression was detected in liver. RT-PCR analysis detected low but wide expression in normal tissues except liver, spleen, and leukocytes. Calcium overlay binding analysis indicated that the extracellular repeat domains bind Ca(2+). The binding was not inhibited by magnesium, but it was inhibited by neomycin and by gadolinium. Western blot analysis showed expression of an approximately 220-kD cell surface VLGR1 protein. <a href="#13" class="mim-tip-reference" title="Nikkila, H., McMillan, D. R., Nunez, B. S., Pascoe, L., Curnow, K. M., White, P. C. <strong>Sequence similarities between a novel putative G protein-coupled receptor and Na(+)/Ca(2+) exchangers define a cation binding domain.</strong> Molec. Endocr. 14: 1351-1364, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10976914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10976914</a>] [<a href="https://doi.org/10.1210/mend.14.9.0511" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10976914">Nikkila et al. (2000)</a> proposed that VLGR1 binds its ligand through calcium-mediated interactions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10976914" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By in situ hybridization analysis, <a href="#11" class="mim-tip-reference" title="McMillan, D. R., Kayes-Wandover, K. M., Richardson, J. A., White, P. C. <strong>Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system.</strong> J. Biol. Chem. 277: 785-792, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11606593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11606593</a>] [<a href="https://doi.org/10.1074/jbc.M108929200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11606593">McMillan et al. (2002)</a> demonstrated high expression of mouse Vlgr1 in the neural groove by embryonic day 8.0 and in the neuroepithelium by embryonic day 8.5, particularly in the ventral developing floor of the brain. As gestation progressed, expression became most intense in optical structures and extended throughout the brain before narrowing with the slowing of neurogenesis in late gestation. In adult mice, expression was restricted to the mammillary nuclei of the hypothalamus. By RT-PCR analysis of mouse brain tissue, followed by 5-prime and 3-prime RACE amplifications and human genome database analysis, <a href="#11" class="mim-tip-reference" title="McMillan, D. R., Kayes-Wandover, K. M., Richardson, J. A., White, P. C. <strong>Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system.</strong> J. Biol. Chem. 277: 785-792, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11606593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11606593</a>] [<a href="https://doi.org/10.1074/jbc.M108929200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11606593">McMillan et al. (2002)</a> isolated cDNAs encoding 2 isoforms of VLGR1. They designated these isoforms VLGR1B and VLGR1C and renamed the isoform identified by <a href="#13" class="mim-tip-reference" title="Nikkila, H., McMillan, D. R., Nunez, B. S., Pascoe, L., Curnow, K. M., White, P. C. <strong>Sequence similarities between a novel putative G protein-coupled receptor and Na(+)/Ca(2+) exchangers define a cation binding domain.</strong> Molec. Endocr. 14: 1351-1364, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10976914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10976914</a>] [<a href="https://doi.org/10.1210/mend.14.9.0511" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10976914">Nikkila et al. (2000)</a> VLGR1A. The deduced 6,307-amino acid VLGR1B protein contains a putative signal peptide, 90 predicted N-linked glycosylation sites, 35 calcium exchanger (CALX)-beta repeats, and a potential pentraxin (PTX; see <a href="/entry/602492">602492</a>) domain in its extracellular portion. The TM segment of VLGR1B is related to rat latrophilin. The deduced 2,296-amino acid VLGR1C protein has a signal peptide, 15 CALX-beta domains, and the PTX domain, but it has no TM segments. RT-PCR analysis suggested that VLGR1B is 4 times more abundant than VLGR1A in all tissues tested, whereas VLRG1C is approximately 1.5 times more abundant than VLGR1B in most tissues tested; in fetal testis, VLGR1C was expressed almost exclusively. <a href="#11" class="mim-tip-reference" title="McMillan, D. R., Kayes-Wandover, K. M., Richardson, J. A., White, P. C. <strong>Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system.</strong> J. Biol. Chem. 277: 785-792, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11606593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11606593</a>] [<a href="https://doi.org/10.1074/jbc.M108929200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11606593">McMillan et al. (2002)</a> concluded that VLGR1 is the largest protein expressed on the cell surface and is probably a marker for a neural progenitor cell type and important for development of the CNS. They noted that Vlgr1b predominates in the mouse and that there is no murine homolog of human VLGR1A. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10976914+11606593" 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="#11" class="mim-tip-reference" title="McMillan, D. R., Kayes-Wandover, K. M., Richardson, J. A., White, P. C. <strong>Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system.</strong> J. Biol. Chem. 277: 785-792, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11606593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11606593</a>] [<a href="https://doi.org/10.1074/jbc.M108929200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11606593">McMillan et al. (2002)</a> determined that the GPR98 gene contains 90 exons and spans at least 600 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11606593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using radiation hybrid analysis, <a href="#9" class="mim-tip-reference" title="Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 169-176, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9734811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9734811</a>] [<a href="https://doi.org/10.1093/dnares/5.3.169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9734811">Ishikawa et al. (1998)</a> mapped the GPR98 gene to chromosome 5. By linkage analysis of YAC clones, FISH, and radiation hybrid analysis, <a href="#13" class="mim-tip-reference" title="Nikkila, H., McMillan, D. R., Nunez, B. S., Pascoe, L., Curnow, K. M., White, P. C. <strong>Sequence similarities between a novel putative G protein-coupled receptor and Na(+)/Ca(2+) exchangers define a cation binding domain.</strong> Molec. Endocr. 14: 1351-1364, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10976914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10976914</a>] [<a href="https://doi.org/10.1210/mend.14.9.0511" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10976914">Nikkila et al. (2000)</a> mapped the GPR98 gene to chromosome 5q14.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10976914+9734811" 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="#15" class="mim-tip-reference" title="Skradski, S. L., Clark, A. M., Jiang, H., White, H. S., Fu, Y.-H., Ptacek, L. J. <strong>A novel gene causing a mendelian audiogenic mouse epilepsy.</strong> Neuron 31: 537-544, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11545713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11545713</a>] [<a href="https://doi.org/10.1016/s0896-6273(01)00397-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11545713">Skradski et al. (2001)</a> identified a genomic clone containing the human homolog of the mouse Mass1 gene. Using this clone for fluorescence in situ hybridization, they mapped the human GPR98 gene to chromosome 5q14. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11545713" 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>Most genes mutated in hereditary idiopathic epilepsies encode subunits of ion channels. Two apparent exceptions to this rule are the MASS1 gene, and the LGI1 (<a href="/entry/604619">604619</a>) gene, which is mutated in autosomal dominant partial epilepsy with auditory features (ADLTE; <a href="/entry/600512">600512</a>). <a href="#14" class="mim-tip-reference" title="Scheel, H., Tomiuk, S., Hofmann, K. <strong>A common protein interaction domain links two recently identified epilepsy genes.</strong> Hum. Molec. Genet. 11: 1757-1762, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12095917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12095917</a>] [<a href="https://doi.org/10.1093/hmg/11.15.1757" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12095917">Scheel et al. (2002)</a> determined by amino acid analysis of both proteins that each contains a novel homology domain consisting of a 7-fold repeated 44-residue motif. The architecture and structural features of this new domain make it a likely member of the growing class of protein interaction domains with a 7-bladed beta-propeller fold. In the MASS1 gene product, which is a fragment of the very large G protein-coupled receptor VLGR1, this EAR domain (for epilepsy-associated repeat) is part of the ligand-binding ectodomain. LGI1, as well as a number of newly-identified LGI1 relatives, is predicted to be a secreted protein, and consists of an N-terminal leucine-rich repeat region and a C-terminal EAR region. The human genome encodes at least 6 EAR proteins, some of which map to chromosomal regions associated with seizure disorders. The authors hypothesized that the EAR domain may play an important role in the pathogenesis of epilepsy, either by binding to an unknown antiepileptic ligand or by interfering with axon guidance or synaptogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12095917" 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="#2" class="mim-tip-reference" title="Ebermann, I., Phillips, J. B., Liebau, M. C., Koenekoop, R. K., Schermer, B., Lopez, I., Schafer, E., Roux, A.-F., Dafinger, C., Bernd, A., Zrenner, E., Claustres, M., Blanco, B., Nurnberg, G., Nurnberg, P., Ruland, R., Westerfield, M., Benzing, T., Bolz, H. J. <strong>PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.</strong> J. Clin. Invest. 120: 1812-1823, 2010. Note: Erratum: J. Clin. Invest. 121: 821 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20440071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20440071</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20440071[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI39715" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20440071">Ebermann et al. (2010)</a> performed a yeast 2-hybrid screen of human fetal brain and observed interaction of the PDZ2 domain of the PDZD7 gene (<a href="/entry/612971">612971</a>) with the C-terminal intracellular domain of GPR98, including its PDZ-binding motif. Coimmunoprecipitation studies confirmed the interaction and revealed that it is mediated by the PDZ2 domain of PDZD7 and the PDZ-binding motif of GPR98. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20440071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Familial Febrile Seizures 4</em></strong></p><p>
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Studies in developed nations indicated that 2 to 5% of all children will experience a febrile seizure before 5 years of age. In the Japanese population, the incidence was calculated to be as high as 7%. A naturally occurring mutation of the Mass1 gene was reported in the Frings mouse strain, which is prone to audiogenic seizures (<a href="#16" class="mim-tip-reference" title="Skradski, S. L., White, H. S., Ptacek, L. J. <strong>Genetic mapping of a locus (mass1) causing audiogenic seizures in mice.</strong> Genomics 49: 188-192, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9598305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9598305</a>] [<a href="https://doi.org/10.1006/geno.1998.5229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9598305">Skradski et al., 1998</a>; <a href="#15" class="mim-tip-reference" title="Skradski, S. L., Clark, A. M., Jiang, H., White, H. S., Fu, Y.-H., Ptacek, L. J. <strong>A novel gene causing a mendelian audiogenic mouse epilepsy.</strong> Neuron 31: 537-544, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11545713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11545713</a>] [<a href="https://doi.org/10.1016/s0896-6273(01)00397-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11545713">Skradski et al., 2001</a>). The human ortholog, MASS1, maps to 5q14, where a form of febrile seizures (FEB4; <a href="/entry/604352">604352</a>) had been mapped. Therefore, MASS1 was a strong candidate for the FEB4 gene. <a href="#12" class="mim-tip-reference" title="Nakayama, J., Fu, Y.-H., Clark, A. M., Nakahara, S., Hamano, K., Iwasaki, N., Matsui, A., Arinami, T., Ptacek, L. J. <strong>A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.</strong> Ann. Neurol. 52: 654-657, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402266</a>] [<a href="https://doi.org/10.1002/ana.10347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12402266">Nakayama et al. (2002)</a> screened for MASS1 mutations in individuals from 48 Japanese families with familial febrile seizures and found 25 DNA alterations. None of 9 missense polymorphic alleles were significantly associated with febrile seizures; however, a ser2652-to-ter mutation (S2652X; <a href="#0001">602851.0001</a>) causing a deletion of the C-terminal 126 amino acid residues was identified in 1 family with febrile and afebrile seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9598305+11545713+12402266" 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 20-month-old girl and her mother with febrile seizures, <a href="#5" class="mim-tip-reference" title="Han, J. Y., Lee, H. J., Lee, Y.-M., Park, J. <strong>Identification of missense ADGRV1 mutation as a candidate genetic cause of familial febrile seizure 4.</strong> Children (Basel) 7: 144, 2020. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32962041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32962041</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32962041[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/10.3390/children7090144" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32962041">Han et al. (2020)</a> identified a heterozygous missense mutation in the ADGRV1 gene (NM_032119.3, c.2039A-G, D680G, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs547076322;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs547076322</a>). The mutation was identified by targeted exome sequencing and confirmed by Sanger sequencing. The variant had an allele frequency of 2.8 x 10(-5) in the gnomAD database. No functional studies were performed. The authors concluded that the mutation may be a cause FEB4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32962041" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Usher Syndrome Type IIC</em></strong></p><p>
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Usher syndrome type II is a genetically heterogeneous autosomal recessive disorder characterized by hearing loss and retinitis pigmentosa. Type IIC Usher syndrome (USH2C; <a href="/entry/605472">605472</a>) maps to 5q14-q21. <a href="#17" class="mim-tip-reference" title="Weston, M. D., Luijendijk, M. W. J., Humphrey, K. D., Moller, C., Kimberling, W. J. <strong>Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.</strong> Am. J. Hum. Genet. 74: 357-366, 2004. Note: Am. J. Hum. Genet. 74: 1080 only, 2004. Note: Erratum: Am. J. Hum. Genet. 74: 1080 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14740321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14740321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14740321[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/10.1086/381685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14740321">Weston et al. (2004)</a> considered the VLGR1 gene a likely candidate for USH2C because of its position in the 5q14.3-q21.1 interval, its protein motif structure, and EST representation from both cochlear and retinal subtracted libraries. Using denaturing high-performance liquid chromatography (DHPLC) and direct sequencing of PCR products amplified from genetically independent patients with USH2C and 156 other patients with USH2, <a href="#17" class="mim-tip-reference" title="Weston, M. D., Luijendijk, M. W. J., Humphrey, K. D., Moller, C., Kimberling, W. J. <strong>Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.</strong> Am. J. Hum. Genet. 74: 357-366, 2004. Note: Am. J. Hum. Genet. 74: 1080 only, 2004. Note: Erratum: Am. J. Hum. Genet. 74: 1080 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14740321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14740321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14740321[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/10.1086/381685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14740321">Weston et al. (2004)</a> identified 4 isoform-specific VLGR1 mutations in 3 families with USH2C and in 2 sporadic cases. All patients with VLGR1 mutations were female, a significant deviation from random expectations. VLGR1 mutations had been identified in both humans and mice, in association with a reflex-seizure phenotype in both species. Three VLGR1 mRNA isoforms are expressed in the human: VLGR1a, VLGR1b, and VLGR1c. The USH2C mutations observed by <a href="#17" class="mim-tip-reference" title="Weston, M. D., Luijendijk, M. W. J., Humphrey, K. D., Moller, C., Kimberling, W. J. <strong>Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.</strong> Am. J. Hum. Genet. 74: 357-366, 2004. Note: Am. J. Hum. Genet. 74: 1080 only, 2004. Note: Erratum: Am. J. Hum. Genet. 74: 1080 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14740321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14740321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14740321[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/10.1086/381685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14740321">Weston et al. (2004)</a> all involved isoform VLGR1b, but not isoform VLGR1c. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14740321" 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 10 of 31 French USH2 patients who were not linked to the USH2A locus (<a href="/entry/608400">608400</a>), <a href="#1" class="mim-tip-reference" title="Besnard, T., Vache, C., Baux, D., Larrieu, L., Abadie, C., Blanchet, C., Odent, S., Blanchet, P., Calvas, P., Hamel, C., Dollfus, H., Lina-Granade, G., Lespinasse, J., David, A., Isidor, B., Morin, G., Malcolm, S., Tuffery-Giraud, S., Claustres, M., Roux, A.-F. <strong>Non-USH2A mutations in USH2 patients.</strong> Hum. Mutat. 33: 504-510, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22147658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22147658</a>] [<a href="https://doi.org/10.1002/humu.22004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22147658">Besnard et al. (2012)</a> identified mutations in the GPR98 gene. In 2 of the 10 patients, only 1 deleterious mutation was identified in GPR98; screening for large genomic rearrangements revealed a large duplication involving several exons of GPR98 in 1 of the patients. In the other patient, the PDZD7 gene (<a href="/entry/612971">612971</a>) was analyzed, but no mutations were found. <a href="#1" class="mim-tip-reference" title="Besnard, T., Vache, C., Baux, D., Larrieu, L., Abadie, C., Blanchet, C., Odent, S., Blanchet, P., Calvas, P., Hamel, C., Dollfus, H., Lina-Granade, G., Lespinasse, J., David, A., Isidor, B., Morin, G., Malcolm, S., Tuffery-Giraud, S., Claustres, M., Roux, A.-F. <strong>Non-USH2A mutations in USH2 patients.</strong> Hum. Mutat. 33: 504-510, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22147658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22147658</a>] [<a href="https://doi.org/10.1002/humu.22004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22147658">Besnard et al. (2012)</a> concluded that GPR98 mutations account for a small but significant proportion of mutations causing USH2 (6.4%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22147658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Usher Syndrome Type IIC, GPR98/PDZD7 Digenic</em></strong></p><p>
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In a 51-year-old German man with type II Usher syndrome, who was negative for mutation in the Usher genes USH2A (<a href="/entry/608400">608400</a>), WHRN (<a href="/entry/607928">607928</a>), and CLRN1 (<a href="/entry/606397">606397</a>), <a href="#2" class="mim-tip-reference" title="Ebermann, I., Phillips, J. B., Liebau, M. C., Koenekoop, R. K., Schermer, B., Lopez, I., Schafer, E., Roux, A.-F., Dafinger, C., Bernd, A., Zrenner, E., Claustres, M., Blanco, B., Nurnberg, G., Nurnberg, P., Ruland, R., Westerfield, M., Benzing, T., Bolz, H. J. <strong>PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.</strong> J. Clin. Invest. 120: 1812-1823, 2010. Note: Erratum: J. Clin. Invest. 121: 821 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20440071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20440071</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20440071[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI39715" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20440071">Ebermann et al. (2010)</a> identified a heterozygous frameshift mutation in the GPR98 gene (<a href="#0010">602851.0010</a>) and a heterozygous frameshift mutation in the PDZD7 gene (<a href="/entry/612971#0002">612971.0002</a>). No second mutant allele was detected in GPR98 or PDZD7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20440071" 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="#16" class="mim-tip-reference" title="Skradski, S. L., White, H. S., Ptacek, L. J. <strong>Genetic mapping of a locus (mass1) causing audiogenic seizures in mice.</strong> Genomics 49: 188-192, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9598305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9598305</a>] [<a href="https://doi.org/10.1006/geno.1998.5229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9598305">Skradski et al. (1998)</a> mapped a genetic locus causing audiogenic seizures in mice to an interval of approximately 3.6 cM in the middle of mouse chromosome 13. Frings audiogenic seizure-susceptibility mice represent a model for sensory-evoked reflex seizures. Their seizure phenotype is characterized by wild running, loss of righting reflex, tonic flexion, and tonic extension in response to high-intensity sound stimulation. <a href="#15" class="mim-tip-reference" title="Skradski, S. L., Clark, A. M., Jiang, H., White, H. S., Fu, Y.-H., Ptacek, L. J. <strong>A novel gene causing a mendelian audiogenic mouse epilepsy.</strong> Neuron 31: 537-544, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11545713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11545713</a>] [<a href="https://doi.org/10.1016/s0896-6273(01)00397-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11545713">Skradski et al. (2001)</a> identified the Mass1 gene in mutant Frings mice and determined that they were homozygous for a single basepair deletion that led to premature termination of the encoded protein. The mRNA levels of this gene in various tissues were so low that the cDNA eluded detection by standard library screening approaches. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9598305+11545713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="McMillan, D. R., Kayes-Wandover, K. M., Richardson, J. A., White, P. C. <strong>Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system.</strong> J. Biol. Chem. 277: 785-792, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11606593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11606593</a>] [<a href="https://doi.org/10.1074/jbc.M108929200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11606593">McMillan et al. (2002)</a> noted that the phenotype of the Frings mouse results from a naturally occurring deletion of nucleotide 6835 (G) within exon 31 of the Vlgr1 gene, converting val2250 to a stop codon (V2250X). The mutation prevents the synthesis of Vlgr1b and truncates Vlgr1c by 63 amino acids. The gene reported to be mutant in Frings mouse, Mass1, has several transcripts, the longest of which actually consists of exons 6 to 39 of Vlgr1. <a href="#11" class="mim-tip-reference" title="McMillan, D. R., Kayes-Wandover, K. M., Richardson, J. A., White, P. C. <strong>Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system.</strong> J. Biol. Chem. 277: 785-792, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11606593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11606593</a>] [<a href="https://doi.org/10.1074/jbc.M108929200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11606593">McMillan et al. (2002)</a> determined that Mass1 transcripts are expressed, if at all, at low levels compared with Vlgr1. They proposed that the Mass1 mutation in the Frings mouse strain supports the role of VLGR1 in the normal development of the CNS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11606593" 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="#10" class="mim-tip-reference" title="Johnson, K. R., Zheng, Q. Y., Weston, M. D., Ptacek, L. J., Noben-Trauth, K. <strong>The Mass1-frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.</strong> Genomics 85: 582-590, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15820310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15820310</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15820310[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ygeno.2005.02.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15820310">Johnson et al. (2005)</a> determined that the V2250X mutation in the mouse Mass1 gene is responsible for the early-onset hearing impairment of BUB/BnJ mice. They also showed that an additive effect of a Cdh23 (<a href="/entry/605516">605516</a>) mutation causes an age-related progression of the hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15820310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Guan, Y., Du, H. B., Yang, Z., Wang, Y. Z., Ren, R., Liu, W. W., Zhang, C., Zhang, J. H., An, W. T., Li, N. N., Zeng, X. X., Li, J., and 10 others. <strong>Deafness-associated ADGRV1 mutation impairs USH2A stability through improper phosphorylation of WHRN and WDSUB1 recruitment.</strong> Adv. Sci. (Weinh.) 10: e2205993, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37066759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37066759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37066759[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/advs.202205993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37066759">Guan et al. (2023)</a> generated mice homozygous for a 19-bp deletion in the Adgrv1 gene, which they called the Y6236fsX1 mutation, resulting in a truncated Adgrv1 protein lacking the C-terminal 63 amino acids. Y6236fsX1 corresponds to the human ADGRV1 mutation Y6244fsX1 (<a href="#0005">602851.0005</a>), which is associated with sensorineural hearing loss and retinitis pigmentosa. Homozygous Adgrv1 Y6236fsX1 mice were viable and had normal body weight, motor function, and life expectancy, but they were profoundly deaf. Immunostaining showed that Y6236fsX1 affected trafficking of Adgrv1 to the stereocilia of cochlear hair cells. Stereocilia of mutant mice became progressively disorganized, impairing the mechanoelectrical transduction function of hair cells. The authors found that Adgrv1 stabilized Ush2a (<a href="/entry/608400">608400</a>), a component of the ALC, by forming an Adgrv1-Whrn (<a href="/entry/607928">607928</a>)-Ush2a complex and inhibiting constitutive degradation of Ush2a via a ubiquitin-lysosomal pathway. However, this ability of Adgrv1 was largely abolished in mutant mice, because mutant Adgrv1 lost its ability to inhibit Whrn phosphorylation, which regulated Ush2a ubiquitination by recruiting Wdsub1 (<a href="/entry/620802">620802</a>). Wdsub1 acted as an intermediary regulator between Whrn and Ush2a, whereas Whrn acted as a scaffold for both Ush2a and Wdsub1 to facilitate regulation of Ush2a ubiquitination levels by Wdsub1. Further analysis provided insights into the architectural organization of the ALC and interaction motifs within the complex at single-residue resolution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37066759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=602851[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 FEBRILE SEIZURES, FAMILIAL, 4 (1 family)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909761 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909761;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=rs121909761" 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=rs121909761" 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 Japanese sister and brother (family FS17) with febrile and afebrile seizures (FEB4; <a href="/entry/604352">604352</a>), <a href="#12" class="mim-tip-reference" title="Nakayama, J., Fu, Y.-H., Clark, A. M., Nakahara, S., Hamano, K., Iwasaki, N., Matsui, A., Arinami, T., Ptacek, L. J. <strong>A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.</strong> Ann. Neurol. 52: 654-657, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402266</a>] [<a href="https://doi.org/10.1002/ana.10347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12402266">Nakayama et al. (2002)</a> identified a heterozygous c.7955C-to-A transversion in the MASS1 (ADGRV1) gene that resulted in a ser2652-to-ter (S2652X) mutation and deletion of the C-terminal 126 amino acid residues of the protein. The family was 1 of 48 Japanese families with familial febrile seizures that showed evidence of linkage to chromosome 5q14 in which <a href="#12" class="mim-tip-reference" title="Nakayama, J., Fu, Y.-H., Clark, A. M., Nakahara, S., Hamano, K., Iwasaki, N., Matsui, A., Arinami, T., Ptacek, L. J. <strong>A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.</strong> Ann. Neurol. 52: 654-657, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402266</a>] [<a href="https://doi.org/10.1002/ana.10347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12402266">Nakayama et al. (2002)</a> found 25 DNA alterations in the MASS1 gene. None of 9 missense polymorphic alleles were significantly associated with febrile seizures. The father of the sibs carried the mutation but was reported to be unaffected; his sister had a history of febrile and afebrile seizures but declined to be examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12402266" 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> rs121909762 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909762;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/rs121909762?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=rs121909762" 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=rs121909762" 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 family with Usher syndrome type IIC (USH2C; <a href="/entry/605472">605472</a>), <a href="#17" class="mim-tip-reference" title="Weston, M. D., Luijendijk, M. W. J., Humphrey, K. D., Moller, C., Kimberling, W. J. <strong>Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.</strong> Am. J. Hum. Genet. 74: 357-366, 2004. Note: Am. J. Hum. Genet. 74: 1080 only, 2004. Note: Erratum: Am. J. Hum. Genet. 74: 1080 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14740321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14740321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14740321[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/10.1086/381685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14740321">Weston et al. (2004)</a> found compound heterozygosity for a c.6901C-T transition (Q2301X) and a 4-bp insertion, c.8716_17insAACA (Ile2906fs) in the ADGRV1 gene. The Q2301X mutation was also found in 2 unrelated patients with sporadic USH2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14740321" 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">rs796051863 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs796051863;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=rs796051863" 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=rs796051863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 4-bp insertion in the GPR98 gene (8716_17insAACA) that was found in compound heterozygous state in a family with Usher syndrome type IIC (USH2C; <a href="/entry/605472">605472</a>) by <a href="#17" class="mim-tip-reference" title="Weston, M. D., Luijendijk, M. W. J., Humphrey, K. D., Moller, C., Kimberling, W. J. <strong>Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.</strong> Am. J. Hum. Genet. 74: 357-366, 2004. Note: Am. J. Hum. Genet. 74: 1080 only, 2004. Note: Erratum: Am. J. Hum. Genet. 74: 1080 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14740321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14740321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14740321[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/10.1086/381685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14740321">Weston et al. (2004)</a>, see <a href="#0002">602851.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14740321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 USHER SYNDROME, TYPE IIC</strong>
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<p>In affected members of a family with Usher syndrome type IIC (USH2C; <a href="/entry/605472">605472</a>), <a href="#17" class="mim-tip-reference" title="Weston, M. D., Luijendijk, M. W. J., Humphrey, K. D., Moller, C., Kimberling, W. J. <strong>Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.</strong> Am. J. Hum. Genet. 74: 357-366, 2004. Note: Am. J. Hum. Genet. 74: 1080 only, 2004. Note: Erratum: Am. J. Hum. Genet. 74: 1080 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14740321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14740321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14740321[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/10.1086/381685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14740321">Weston et al. (2004)</a> found a 1-bp deletion, c.8790delC (Met2931fs), on the maternal allele of the ADGRV1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14740321" 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">rs796051865 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs796051865;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=rs796051865" 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=rs796051865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a family with Usher syndrome type IIC (USH2C; <a href="/entry/605472">605472</a>), <a href="#17" class="mim-tip-reference" title="Weston, M. D., Luijendijk, M. W. J., Humphrey, K. D., Moller, C., Kimberling, W. J. <strong>Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.</strong> Am. J. Hum. Genet. 74: 357-366, 2004. Note: Am. J. Hum. Genet. 74: 1080 only, 2004. Note: Erratum: Am. J. Hum. Genet. 74: 1080 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14740321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14740321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14740321[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/10.1086/381685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14740321">Weston et al. (2004)</a> found a 19-bp deletion, c.18732_18750del19bp (Thr6244Ter), on the paternal allele of the ADGRV1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14740321" 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">rs121909763 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909763;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=rs121909763" 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=rs121909763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a large consanguineous Tunisian family with Usher syndrome type IIC (USH2C; <a href="/entry/605472">605472</a>), <a href="#8" class="mim-tip-reference" title="Hmani-Aifa, M., Benzina, Z., Zulfiqar, F., Dhouib, H., Shahzadi, A., Ghorbel, A., Rebai, A., Soderkvist, P., Riazuddin, S., Kimberling, W. J., Ayadi, H. <strong>Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.</strong> Europ. J. Hum. Genet. 17: 474-482, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854872</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854872[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/10.1038/ejhg.2008.167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18854872">Hmani-Aifa et al. (2009)</a> identified a homozygous c.18131A-G transition in exon 85 of the GPR98 gene, resulting in a tyr6044-to-cys (Y6044C) substitution in a highly conserved residue in the second extracellular loop. The mutation was predicted to disrupt an interloop disulfide bridge, leading to an improperly folded loop and nonfunctional receptor. Heterozygous mutation carriers were unaffected. The family also segregated nonsyndromic retinitis pigmentosa-40 (RP40; <a href="/entry/613801">613801</a>), caused by a homozygous mutation in the PDE6B gene (<a href="/entry/180072#0007">180072.0007</a>). One family member who was doubly homozygous for both mutations had a more severe ocular phenotype. Two family members who were doubly heterozygous for both mutations were unaffected at ages 82 and 65 years, respectively. <a href="#8" class="mim-tip-reference" title="Hmani-Aifa, M., Benzina, Z., Zulfiqar, F., Dhouib, H., Shahzadi, A., Ghorbel, A., Rebai, A., Soderkvist, P., Riazuddin, S., Kimberling, W. J., Ayadi, H. <strong>Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.</strong> Europ. J. Hum. Genet. 17: 474-482, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854872</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854872[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/10.1038/ejhg.2008.167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18854872">Hmani-Aifa et al. (2009)</a> commented that consanguinity can increase familial clustering of multiple hereditary diseases within the same family. The family had originally been reported by <a href="#7" class="mim-tip-reference" title="Hmani, M., Ghorbel, A., Boulila-Elgaied, A., Ben Zina, Z., Kammoun, W., Drira, M., Chaabouni, M., Petit, C., Ayadi, H. <strong>A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.</strong> Europ. J. Hum. Genet. 7: 363-367, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10234513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10234513</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10234513">Hmani et al. (1999)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18854872+10234513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a large consanguineous Iranian family with Usher syndrome type IIC (USH2C; <a href="/entry/605472">605472</a>), <a href="#6" class="mim-tip-reference" title="Hilgert, N., Kahrizi, K., Dieltjens, N., Bazazzadegan, N., Najmabadi, H., Smith, R. J. H., Van Camp, G. <strong>A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.</strong> J. Med. Genet. 46: 272-276, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19357116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19357116</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19357116[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2008.060947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19357116">Hilgert et al. (2009)</a> identified a large homozygous 136-kbp deletion in the GPR98 gene, resulting in the deletion of exons 84 and 85 and premature protein termination. Three males and 3 females were affected. Two family members with only hearing loss did not carry the deletion, suggesting a different cause of hearing loss in these individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19357116" 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">rs796051866 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs796051866;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=rs796051866" 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=rs796051866" 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 German brother and sister with Usher syndrome type IIC (USH2C; <a href="/entry/605472">605472</a>), <a href="#3" class="mim-tip-reference" title="Ebermann, I., Wiesen, M. H. J., Zrenner, E., Lopez, I., Pigeon, R., Kohl, S., Lowenheim, H., Koenekoop, R. K., Bolz, H. J. <strong>GPR98 mutations cause Usher syndrome type 2 in males.</strong> J. Med. Genet. 46: 277-280, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19357117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19357117</a>] [<a href="https://doi.org/10.1136/jmg.2008.059626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19357117">Ebermann et al. (2009)</a> identified compound heterozygosity a 13-bp deletion (2258_2270del13) in exon 12 of the GPR98 gene and a 2-bp deletion (5356_5357delAA; <a href="#0009">602851.0009</a>) in exon 25 of the GPR98 gene. Both mutations resulted in frameshift and premature termination and were not found in 50 healthy controls. The patients were 43 and 50 years old, respectively, at the time of the examination. Both patients had congenital, bilateral, symmetric, moderate to severe hearing loss with a mildly downsloping pure tone audiogram. The woman had slightly better visual acuity and had later onset of visual defects than her brother, but both had retinitis pigmentosa. <a href="#3" class="mim-tip-reference" title="Ebermann, I., Wiesen, M. H. J., Zrenner, E., Lopez, I., Pigeon, R., Kohl, S., Lowenheim, H., Koenekoop, R. K., Bolz, H. J. <strong>GPR98 mutations cause Usher syndrome type 2 in males.</strong> J. Med. Genet. 46: 277-280, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19357117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19357117</a>] [<a href="https://doi.org/10.1136/jmg.2008.059626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19357117">Ebermann et al. (2009)</a> concluded that males and females with GPR98 mutations show a typical USH2C phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19357117" 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">rs796051867 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs796051867;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=rs796051867" 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=rs796051867" 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=RCV000007207" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007207" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007207</a>
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<p>For discussion of the 2-bp deletion in the GPR98 gene (5356_5357delAA) that was found in compound heterozygous state in a brother and sister with Usher syndrome type IIC (USH2C; <a href="/entry/605472">605472</a>) by <a href="#3" class="mim-tip-reference" title="Ebermann, I., Wiesen, M. H. J., Zrenner, E., Lopez, I., Pigeon, R., Kohl, S., Lowenheim, H., Koenekoop, R. K., Bolz, H. J. <strong>GPR98 mutations cause Usher syndrome type 2 in males.</strong> J. Med. Genet. 46: 277-280, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19357117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19357117</a>] [<a href="https://doi.org/10.1136/jmg.2008.059626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19357117">Ebermann et al. (2009)</a>, see <a href="#0008">602851.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19357117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554135663 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554135663;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=rs1554135663" 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=rs1554135663" 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=RCV000023211" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023211" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023211</a>
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<span class="mim-text-font">
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<p>In a 51-year-old German man with Usher syndrome type IIC (USH2C; <a href="/entry/605472">605472</a>), <a href="#2" class="mim-tip-reference" title="Ebermann, I., Phillips, J. B., Liebau, M. C., Koenekoop, R. K., Schermer, B., Lopez, I., Schafer, E., Roux, A.-F., Dafinger, C., Bernd, A., Zrenner, E., Claustres, M., Blanco, B., Nurnberg, G., Nurnberg, P., Ruland, R., Westerfield, M., Benzing, T., Bolz, H. J. <strong>PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.</strong> J. Clin. Invest. 120: 1812-1823, 2010. Note: Erratum: J. Clin. Invest. 121: 821 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20440071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20440071</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20440071[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI39715" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20440071">Ebermann et al. (2010)</a> identified a heterozygous 1-bp deletion (17137delG) in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene (<a href="/entry/612971#0002">612971.0002</a>). No second mutant allele was detected in GPR98 or PDZD7. His unaffected sister was heterozygous for the PDZD7 mutation but did not carry the GPR98 mutation, which was also not found in 50 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20440071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<strong>Non-USH2A mutations in USH2 patients.</strong>
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Hum. Mutat. 33: 504-510, 2012.
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[<a href="https://doi.org/10.1002/humu.22004" target="_blank">Full Text</a>]
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<a id="Ebermann2010" class="mim-anchor"></a>
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Ebermann, I., Phillips, J. B., Liebau, M. C., Koenekoop, R. K., Schermer, B., Lopez, I., Schafer, E., Roux, A.-F., Dafinger, C., Bernd, A., Zrenner, E., Claustres, M., Blanco, B., Nurnberg, G., Nurnberg, P., Ruland, R., Westerfield, M., Benzing, T., Bolz, H. J.
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<strong>PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.</strong>
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J. Clin. Invest. 120: 1812-1823, 2010. Note: Erratum: J. Clin. Invest. 121: 821 only, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20440071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20440071</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20440071[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=20440071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI39715" target="_blank">Full Text</a>]
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<a id="Ebermann2009" class="mim-anchor"></a>
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Ebermann, I., Wiesen, M. H. J., Zrenner, E., Lopez, I., Pigeon, R., Kohl, S., Lowenheim, H., Koenekoop, R. K., Bolz, H. J.
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<strong>GPR98 mutations cause Usher syndrome type 2 in males.</strong>
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J. Med. Genet. 46: 277-280, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19357117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19357117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19357117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2008.059626" target="_blank">Full Text</a>]
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Guan, Y., Du, H. B., Yang, Z., Wang, Y. Z., Ren, R., Liu, W. W., Zhang, C., Zhang, J. H., An, W. T., Li, N. N., Zeng, X. X., Li, J., and 10 others.
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<strong>Deafness-associated ADGRV1 mutation impairs USH2A stability through improper phosphorylation of WHRN and WDSUB1 recruitment.</strong>
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Adv. Sci. (Weinh.) 10: e2205993, 2023.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37066759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37066759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37066759[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=37066759" 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/advs.202205993" target="_blank">Full Text</a>]
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Han, J. Y., Lee, H. J., Lee, Y.-M., Park, J.
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<strong>Identification of missense ADGRV1 mutation as a candidate genetic cause of familial febrile seizure 4.</strong>
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Children (Basel) 7: 144, 2020. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32962041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32962041</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32962041[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=32962041" 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/10.3390/children7090144" target="_blank">Full Text</a>]
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<a id="Hilgert2009" class="mim-anchor"></a>
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Hilgert, N., Kahrizi, K., Dieltjens, N., Bazazzadegan, N., Najmabadi, H., Smith, R. J. H., Van Camp, G.
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<strong>A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.</strong>
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[<a href="https://doi.org/10.1136/jmg.2008.060947" target="_blank">Full Text</a>]
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<a id="Hmani1999" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1038/sj.ejhg.5200307" target="_blank">Full Text</a>]
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Hmani-Aifa, M., Benzina, Z., Zulfiqar, F., Dhouib, H., Shahzadi, A., Ghorbel, A., Rebai, A., Soderkvist, P., Riazuddin, S., Kimberling, W. J., Ayadi, H.
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<strong>Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.</strong>
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[<a href="https://doi.org/10.1038/ejhg.2008.167" target="_blank">Full Text</a>]
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<a id="Ishikawa1998" class="mim-anchor"></a>
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Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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[<a href="https://doi.org/10.1093/dnares/5.3.169" target="_blank">Full Text</a>]
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Johnson2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Johnson, K. R., Zheng, Q. Y., Weston, M. D., Ptacek, L. J., Noben-Trauth, K.
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<strong>The Mass1-frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.</strong>
|
|
Genomics 85: 582-590, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15820310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15820310</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15820310[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=15820310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ygeno.2005.02.006" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="McMillan2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McMillan, D. R., Kayes-Wandover, K. M., Richardson, J. A., White, P. C.
|
|
<strong>Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system.</strong>
|
|
J. Biol. Chem. 277: 785-792, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11606593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11606593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11606593" 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/10.1074/jbc.M108929200" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Nakayama2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakayama, J., Fu, Y.-H., Clark, A. M., Nakahara, S., Hamano, K., Iwasaki, N., Matsui, A., Arinami, T., Ptacek, L. J.
|
|
<strong>A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.</strong>
|
|
Ann. Neurol. 52: 654-657, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12402266" 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/ana.10347" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Nikkila2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nikkila, H., McMillan, D. R., Nunez, B. S., Pascoe, L., Curnow, K. M., White, P. C.
|
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<strong>Sequence similarities between a novel putative G protein-coupled receptor and Na(+)/Ca(2+) exchangers define a cation binding domain.</strong>
|
|
Molec. Endocr. 14: 1351-1364, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10976914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10976914</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10976914" 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/10.1210/mend.14.9.0511" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Scheel2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scheel, H., Tomiuk, S., Hofmann, K.
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<strong>A common protein interaction domain links two recently identified epilepsy genes.</strong>
|
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Hum. Molec. Genet. 11: 1757-1762, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12095917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12095917</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12095917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/11.15.1757" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Skradski2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Skradski, S. L., Clark, A. M., Jiang, H., White, H. S., Fu, Y.-H., Ptacek, L. J.
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<strong>A novel gene causing a mendelian audiogenic mouse epilepsy.</strong>
|
|
Neuron 31: 537-544, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11545713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11545713</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11545713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0896-6273(01)00397-x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Skradski1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Skradski, S. L., White, H. S., Ptacek, L. J.
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<strong>Genetic mapping of a locus (mass1) causing audiogenic seizures in mice.</strong>
|
|
Genomics 49: 188-192, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9598305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9598305</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9598305" 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/10.1006/geno.1998.5229" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Weston2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weston, M. D., Luijendijk, M. W. J., Humphrey, K. D., Moller, C., Kimberling, W. J.
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<strong>Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.</strong>
|
|
Am. J. Hum. Genet. 74: 357-366, 2004. Note: Am. J. Hum. Genet. 74: 1080 only, 2004. Note: Erratum: Am. J. Hum. Genet. 74: 1080 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14740321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14740321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14740321[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=14740321" 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/10.1086/381685" target="_blank">Full Text</a>]
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</p>
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</div>
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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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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 08/27/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 04/02/2021<br>Marla J. F. O'Neill - updated : 6/8/2012<br>Marla J. F. O'Neill - updated : 5/3/2011<br>Cassandra L. Kniffin - updated : 5/21/2009<br>Cassandra L. Kniffin - updated : 4/16/2009<br>Patricia A. Hartz - updated : 7/15/2005<br>Victor A. McKusick - updated : 1/30/2004<br>George E. Tiller - updated : 6/19/2003<br>Victor A. McKusick - updated : 12/27/2002<br>Paul J. Converse - updated : 2/13/2002<br>Victor A. McKusick - updated : 1/14/2002
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 7/15/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 08/27/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 08/13/2024<br>carol : 02/08/2024<br>carol : 09/07/2021<br>carol : 04/02/2021<br>carol : 02/11/2021<br>mgross : 08/31/2016<br>mgross : 08/31/2016<br>alopez : 02/19/2016<br>carol : 1/4/2016<br>carol : 7/1/2015<br>mcolton : 6/24/2015<br>carol : 9/26/2013<br>terry : 3/28/2013<br>alopez : 6/12/2012<br>terry : 6/8/2012<br>carol : 6/7/2012<br>carol : 5/5/2011<br>terry : 5/3/2011<br>alopez : 3/14/2011<br>ckniffin : 2/10/2011<br>wwang : 10/29/2009<br>ckniffin : 5/21/2009<br>wwang : 4/30/2009<br>ckniffin : 4/16/2009<br>wwang : 8/27/2007<br>mgross : 7/15/2005<br>mgross : 7/15/2005<br>ckniffin : 3/29/2005<br>alopez : 2/4/2004<br>alopez : 2/4/2004<br>cwells : 1/30/2004<br>cwells : 6/19/2003<br>cwells : 1/2/2003<br>terry : 12/27/2002<br>mgross : 2/13/2002<br>carol : 1/15/2002<br>mcapotos : 1/15/2002<br>terry : 1/14/2002<br>carol : 7/15/1998
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</span>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 602851
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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ADHESION G PROTEIN-COUPLED RECEPTOR V1; ADGRV1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
G PROTEIN-COUPLED RECEPTOR 98; GPR98<br />
|
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MONOGENIC AUDIOGENIC SEIZURE SUSCEPTIBILITY 1, MOUSE, HOMOLOG OF; MASS1<br />
|
|
VERY LARGE G PROTEIN-COUPLED RECEPTOR 1; VLGR1<br />
|
|
KIAA0686
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ADGRV1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: 5q14.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 5:90,558,797-91,164,437 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<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>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
5q14.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Febrile seizures, familial, 4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
604352
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Usher syndrome, type 2C
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
605472
|
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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; Digenic dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Usher syndrome, type 2C, GPR98/PDZD7 digenic
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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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605472
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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; Digenic dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>ADGRV1 is a large G protein-coupled receptor (GPCR) that is expressed ubiquitously and plays important roles in the sensory and central nervous system (CNS). In the inner ear, ADGRV1 and several other proteins form the ankle-link complex (ALC), which is involved in hair-cell development (summary by Guan et al., 2023). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By screening for cDNAs with the potential to encode large proteins expressed in brain, Ishikawa et al. (1998) isolated a partial cDNA encoding GPR98, which they called KIAA0686. The deduced 326-amino acid protein was predicted to be related to rat latrophilin (see NRXN1; 600565). </p><p>Using anchored PCR techniques to extend a cDNA containing sequence for a GPCR transmembrane (TM) segment, followed by RT-PCR and screening of BAC and YAC clones, Nikkila et al. (2000) isolated a cDNA encoding VLGR1. Sequence analysis predicted that the 1,967-amino acid VLGR1 protein contains an N-terminal signal peptide, 7 putative Na(+)/Ca(2+) exchangers, 21 N-linked glycosylation sites, the TM region, and a C-terminal domain with a palmitoylation site and multiple potential serine phosphorylation sites. Northern blot analysis of adrenal and testis RNA revealed faint expression of fragmented transcripts; no expression was detected in liver. RT-PCR analysis detected low but wide expression in normal tissues except liver, spleen, and leukocytes. Calcium overlay binding analysis indicated that the extracellular repeat domains bind Ca(2+). The binding was not inhibited by magnesium, but it was inhibited by neomycin and by gadolinium. Western blot analysis showed expression of an approximately 220-kD cell surface VLGR1 protein. Nikkila et al. (2000) proposed that VLGR1 binds its ligand through calcium-mediated interactions. </p><p>By in situ hybridization analysis, McMillan et al. (2002) demonstrated high expression of mouse Vlgr1 in the neural groove by embryonic day 8.0 and in the neuroepithelium by embryonic day 8.5, particularly in the ventral developing floor of the brain. As gestation progressed, expression became most intense in optical structures and extended throughout the brain before narrowing with the slowing of neurogenesis in late gestation. In adult mice, expression was restricted to the mammillary nuclei of the hypothalamus. By RT-PCR analysis of mouse brain tissue, followed by 5-prime and 3-prime RACE amplifications and human genome database analysis, McMillan et al. (2002) isolated cDNAs encoding 2 isoforms of VLGR1. They designated these isoforms VLGR1B and VLGR1C and renamed the isoform identified by Nikkila et al. (2000) VLGR1A. The deduced 6,307-amino acid VLGR1B protein contains a putative signal peptide, 90 predicted N-linked glycosylation sites, 35 calcium exchanger (CALX)-beta repeats, and a potential pentraxin (PTX; see 602492) domain in its extracellular portion. The TM segment of VLGR1B is related to rat latrophilin. The deduced 2,296-amino acid VLGR1C protein has a signal peptide, 15 CALX-beta domains, and the PTX domain, but it has no TM segments. RT-PCR analysis suggested that VLGR1B is 4 times more abundant than VLGR1A in all tissues tested, whereas VLRG1C is approximately 1.5 times more abundant than VLGR1B in most tissues tested; in fetal testis, VLGR1C was expressed almost exclusively. McMillan et al. (2002) concluded that VLGR1 is the largest protein expressed on the cell surface and is probably a marker for a neural progenitor cell type and important for development of the CNS. They noted that Vlgr1b predominates in the mouse and that there is no murine homolog of human VLGR1A. </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>By genomic sequence analysis, McMillan et al. (2002) determined that the GPR98 gene contains 90 exons and spans at least 600 kb. </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>Using radiation hybrid analysis, Ishikawa et al. (1998) mapped the GPR98 gene to chromosome 5. By linkage analysis of YAC clones, FISH, and radiation hybrid analysis, Nikkila et al. (2000) mapped the GPR98 gene to chromosome 5q14.1. </p><p>Skradski et al. (2001) identified a genomic clone containing the human homolog of the mouse Mass1 gene. Using this clone for fluorescence in situ hybridization, they mapped the human GPR98 gene to chromosome 5q14. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Most genes mutated in hereditary idiopathic epilepsies encode subunits of ion channels. Two apparent exceptions to this rule are the MASS1 gene, and the LGI1 (604619) gene, which is mutated in autosomal dominant partial epilepsy with auditory features (ADLTE; 600512). Scheel et al. (2002) determined by amino acid analysis of both proteins that each contains a novel homology domain consisting of a 7-fold repeated 44-residue motif. The architecture and structural features of this new domain make it a likely member of the growing class of protein interaction domains with a 7-bladed beta-propeller fold. In the MASS1 gene product, which is a fragment of the very large G protein-coupled receptor VLGR1, this EAR domain (for epilepsy-associated repeat) is part of the ligand-binding ectodomain. LGI1, as well as a number of newly-identified LGI1 relatives, is predicted to be a secreted protein, and consists of an N-terminal leucine-rich repeat region and a C-terminal EAR region. The human genome encodes at least 6 EAR proteins, some of which map to chromosomal regions associated with seizure disorders. The authors hypothesized that the EAR domain may play an important role in the pathogenesis of epilepsy, either by binding to an unknown antiepileptic ligand or by interfering with axon guidance or synaptogenesis. </p><p>Ebermann et al. (2010) performed a yeast 2-hybrid screen of human fetal brain and observed interaction of the PDZ2 domain of the PDZD7 gene (612971) with the C-terminal intracellular domain of GPR98, including its PDZ-binding motif. Coimmunoprecipitation studies confirmed the interaction and revealed that it is mediated by the PDZ2 domain of PDZD7 and the PDZ-binding motif of GPR98. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Familial Febrile Seizures 4</em></strong></p><p>
|
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Studies in developed nations indicated that 2 to 5% of all children will experience a febrile seizure before 5 years of age. In the Japanese population, the incidence was calculated to be as high as 7%. A naturally occurring mutation of the Mass1 gene was reported in the Frings mouse strain, which is prone to audiogenic seizures (Skradski et al., 1998; Skradski et al., 2001). The human ortholog, MASS1, maps to 5q14, where a form of febrile seizures (FEB4; 604352) had been mapped. Therefore, MASS1 was a strong candidate for the FEB4 gene. Nakayama et al. (2002) screened for MASS1 mutations in individuals from 48 Japanese families with familial febrile seizures and found 25 DNA alterations. None of 9 missense polymorphic alleles were significantly associated with febrile seizures; however, a ser2652-to-ter mutation (S2652X; 602851.0001) causing a deletion of the C-terminal 126 amino acid residues was identified in 1 family with febrile and afebrile seizures. </p><p>In a 20-month-old girl and her mother with febrile seizures, Han et al. (2020) identified a heterozygous missense mutation in the ADGRV1 gene (NM_032119.3, c.2039A-G, D680G, rs547076322). The mutation was identified by targeted exome sequencing and confirmed by Sanger sequencing. The variant had an allele frequency of 2.8 x 10(-5) in the gnomAD database. No functional studies were performed. The authors concluded that the mutation may be a cause FEB4. </p><p><strong><em>Usher Syndrome Type IIC</em></strong></p><p>
|
|
Usher syndrome type II is a genetically heterogeneous autosomal recessive disorder characterized by hearing loss and retinitis pigmentosa. Type IIC Usher syndrome (USH2C; 605472) maps to 5q14-q21. Weston et al. (2004) considered the VLGR1 gene a likely candidate for USH2C because of its position in the 5q14.3-q21.1 interval, its protein motif structure, and EST representation from both cochlear and retinal subtracted libraries. Using denaturing high-performance liquid chromatography (DHPLC) and direct sequencing of PCR products amplified from genetically independent patients with USH2C and 156 other patients with USH2, Weston et al. (2004) identified 4 isoform-specific VLGR1 mutations in 3 families with USH2C and in 2 sporadic cases. All patients with VLGR1 mutations were female, a significant deviation from random expectations. VLGR1 mutations had been identified in both humans and mice, in association with a reflex-seizure phenotype in both species. Three VLGR1 mRNA isoforms are expressed in the human: VLGR1a, VLGR1b, and VLGR1c. The USH2C mutations observed by Weston et al. (2004) all involved isoform VLGR1b, but not isoform VLGR1c. </p><p>In 10 of 31 French USH2 patients who were not linked to the USH2A locus (608400), Besnard et al. (2012) identified mutations in the GPR98 gene. In 2 of the 10 patients, only 1 deleterious mutation was identified in GPR98; screening for large genomic rearrangements revealed a large duplication involving several exons of GPR98 in 1 of the patients. In the other patient, the PDZD7 gene (612971) was analyzed, but no mutations were found. Besnard et al. (2012) concluded that GPR98 mutations account for a small but significant proportion of mutations causing USH2 (6.4%). </p><p><strong><em>Usher Syndrome Type IIC, GPR98/PDZD7 Digenic</em></strong></p><p>
|
|
In a 51-year-old German man with type II Usher syndrome, who was negative for mutation in the Usher genes USH2A (608400), WHRN (607928), and CLRN1 (606397), Ebermann et al. (2010) identified a heterozygous frameshift mutation in the GPR98 gene (602851.0010) and a heterozygous frameshift mutation in the PDZD7 gene (612971.0002). No second mutant allele was detected in GPR98 or PDZD7. </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>Skradski et al. (1998) mapped a genetic locus causing audiogenic seizures in mice to an interval of approximately 3.6 cM in the middle of mouse chromosome 13. Frings audiogenic seizure-susceptibility mice represent a model for sensory-evoked reflex seizures. Their seizure phenotype is characterized by wild running, loss of righting reflex, tonic flexion, and tonic extension in response to high-intensity sound stimulation. Skradski et al. (2001) identified the Mass1 gene in mutant Frings mice and determined that they were homozygous for a single basepair deletion that led to premature termination of the encoded protein. The mRNA levels of this gene in various tissues were so low that the cDNA eluded detection by standard library screening approaches. </p><p>McMillan et al. (2002) noted that the phenotype of the Frings mouse results from a naturally occurring deletion of nucleotide 6835 (G) within exon 31 of the Vlgr1 gene, converting val2250 to a stop codon (V2250X). The mutation prevents the synthesis of Vlgr1b and truncates Vlgr1c by 63 amino acids. The gene reported to be mutant in Frings mouse, Mass1, has several transcripts, the longest of which actually consists of exons 6 to 39 of Vlgr1. McMillan et al. (2002) determined that Mass1 transcripts are expressed, if at all, at low levels compared with Vlgr1. They proposed that the Mass1 mutation in the Frings mouse strain supports the role of VLGR1 in the normal development of the CNS. </p><p>Johnson et al. (2005) determined that the V2250X mutation in the mouse Mass1 gene is responsible for the early-onset hearing impairment of BUB/BnJ mice. They also showed that an additive effect of a Cdh23 (605516) mutation causes an age-related progression of the hearing loss. </p><p>Guan et al. (2023) generated mice homozygous for a 19-bp deletion in the Adgrv1 gene, which they called the Y6236fsX1 mutation, resulting in a truncated Adgrv1 protein lacking the C-terminal 63 amino acids. Y6236fsX1 corresponds to the human ADGRV1 mutation Y6244fsX1 (602851.0005), which is associated with sensorineural hearing loss and retinitis pigmentosa. Homozygous Adgrv1 Y6236fsX1 mice were viable and had normal body weight, motor function, and life expectancy, but they were profoundly deaf. Immunostaining showed that Y6236fsX1 affected trafficking of Adgrv1 to the stereocilia of cochlear hair cells. Stereocilia of mutant mice became progressively disorganized, impairing the mechanoelectrical transduction function of hair cells. The authors found that Adgrv1 stabilized Ush2a (608400), a component of the ALC, by forming an Adgrv1-Whrn (607928)-Ush2a complex and inhibiting constitutive degradation of Ush2a via a ubiquitin-lysosomal pathway. However, this ability of Adgrv1 was largely abolished in mutant mice, because mutant Adgrv1 lost its ability to inhibit Whrn phosphorylation, which regulated Ush2a ubiquitination by recruiting Wdsub1 (620802). Wdsub1 acted as an intermediary regulator between Whrn and Ush2a, whereas Whrn acted as a scaffold for both Ush2a and Wdsub1 to facilitate regulation of Ush2a ubiquitination levels by Wdsub1. Further analysis provided insights into the architectural organization of the ALC and interaction motifs within the complex at single-residue resolution. </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>
|
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</span>
|
|
<strong>10 Selected Examples):</strong>
|
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</span>
|
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</h4>
|
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<div>
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<p />
|
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 FEBRILE SEIZURES, FAMILIAL, 4 (1 family)</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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ADGRV1, SER2652TER
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<br />
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SNP: rs121909761,
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ClinVar: RCV000007199
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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 Japanese sister and brother (family FS17) with febrile and afebrile seizures (FEB4; 604352), Nakayama et al. (2002) identified a heterozygous c.7955C-to-A transversion in the MASS1 (ADGRV1) gene that resulted in a ser2652-to-ter (S2652X) mutation and deletion of the C-terminal 126 amino acid residues of the protein. The family was 1 of 48 Japanese families with familial febrile seizures that showed evidence of linkage to chromosome 5q14 in which Nakayama et al. (2002) found 25 DNA alterations in the MASS1 gene. None of 9 missense polymorphic alleles were significantly associated with febrile seizures. The father of the sibs carried the mutation but was reported to be unaffected; his sister had a history of febrile and afebrile seizures but declined to be examined. </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>.0002 USHER SYNDROME, TYPE IIC</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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ADGRV1, GLN2301TER
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<br />
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SNP: rs121909762,
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gnomAD: rs121909762,
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ClinVar: RCV000007200, RCV000505021, RCV000727026, RCV000763550, RCV000844603
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a family with Usher syndrome type IIC (USH2C; 605472), Weston et al. (2004) found compound heterozygosity for a c.6901C-T transition (Q2301X) and a 4-bp insertion, c.8716_17insAACA (Ile2906fs) in the ADGRV1 gene. The Q2301X mutation was also found in 2 unrelated patients with sporadic USH2. </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>.0003 USHER SYNDROME, TYPE IIC</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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ADGRV1, 4-BP INS, 8716AACA
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<br />
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SNP: rs796051863,
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ClinVar: RCV000007201, RCV005089200
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>For discussion of the 4-bp insertion in the GPR98 gene (8716_17insAACA) that was found in compound heterozygous state in a family with Usher syndrome type IIC (USH2C; 605472) by Weston et al. (2004), see 602851.0002. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0004 USHER SYNDROME, TYPE IIC</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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ADGRV1, 1-BP DEL, 8790C
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<br />
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SNP: rs796051864,
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ClinVar: RCV000007202
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
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<p>In affected members of a family with Usher syndrome type IIC (USH2C; 605472), Weston et al. (2004) found a 1-bp deletion, c.8790delC (Met2931fs), on the maternal allele of the ADGRV1 gene. </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 USHER SYNDROME, TYPE IIC</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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ADGRV1, 19-BP DEL, NT18732
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<br />
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SNP: rs796051865,
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ClinVar: RCV000007203, RCV001381664
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a family with Usher syndrome type IIC (USH2C; 605472), Weston et al. (2004) found a 19-bp deletion, c.18732_18750del19bp (Thr6244Ter), on the paternal allele of the ADGRV1 gene. </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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<h4>
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<span class="mim-font">
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<strong>.0006 USHER SYNDROME, TYPE IIC</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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ADGRV1, TYR6044CYS
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<br />
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SNP: rs121909763,
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ClinVar: RCV000007204
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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 Tunisian family with Usher syndrome type IIC (USH2C; 605472), Hmani-Aifa et al. (2009) identified a homozygous c.18131A-G transition in exon 85 of the GPR98 gene, resulting in a tyr6044-to-cys (Y6044C) substitution in a highly conserved residue in the second extracellular loop. The mutation was predicted to disrupt an interloop disulfide bridge, leading to an improperly folded loop and nonfunctional receptor. Heterozygous mutation carriers were unaffected. The family also segregated nonsyndromic retinitis pigmentosa-40 (RP40; 613801), caused by a homozygous mutation in the PDE6B gene (180072.0007). One family member who was doubly homozygous for both mutations had a more severe ocular phenotype. Two family members who were doubly heterozygous for both mutations were unaffected at ages 82 and 65 years, respectively. Hmani-Aifa et al. (2009) commented that consanguinity can increase familial clustering of multiple hereditary diseases within the same family. The family had originally been reported by Hmani et al. (1999). </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>.0007 USHER SYNDROME, TYPE IIC</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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ADGRV1, 136-KB DEL
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<br />
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ClinVar: RCV000007205
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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 Usher syndrome type IIC (USH2C; 605472), Hilgert et al. (2009) identified a large homozygous 136-kbp deletion in the GPR98 gene, resulting in the deletion of exons 84 and 85 and premature protein termination. Three males and 3 females were affected. Two family members with only hearing loss did not carry the deletion, suggesting a different cause of hearing loss in these individuals. </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>.0008 USHER SYNDROME, TYPE IIC</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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ADGRV1, 13-BP DEL, NT2258
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<br />
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SNP: rs796051866,
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ClinVar: RCV000007206, RCV004700197, RCV004814851
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a German brother and sister with Usher syndrome type IIC (USH2C; 605472), Ebermann et al. (2009) identified compound heterozygosity a 13-bp deletion (2258_2270del13) in exon 12 of the GPR98 gene and a 2-bp deletion (5356_5357delAA; 602851.0009) in exon 25 of the GPR98 gene. Both mutations resulted in frameshift and premature termination and were not found in 50 healthy controls. The patients were 43 and 50 years old, respectively, at the time of the examination. Both patients had congenital, bilateral, symmetric, moderate to severe hearing loss with a mildly downsloping pure tone audiogram. The woman had slightly better visual acuity and had later onset of visual defects than her brother, but both had retinitis pigmentosa. Ebermann et al. (2009) concluded that males and females with GPR98 mutations show a typical USH2C phenotype. </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>.0009 USHER SYNDROME, TYPE IIC</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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ADGRV1, 2-BP DEL, 5356AA
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<br />
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SNP: rs796051867,
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ClinVar: RCV000007207
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 2-bp deletion in the GPR98 gene (5356_5357delAA) that was found in compound heterozygous state in a brother and sister with Usher syndrome type IIC (USH2C; 605472) by Ebermann et al. (2009), see 602851.0008. </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>.0010 USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ADGRV1, 1-BP DEL, 17137G
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<br />
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SNP: rs1554135663,
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ClinVar: RCV000023211
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a 51-year-old German man with Usher syndrome type IIC (USH2C; 605472), Ebermann et al. (2010) identified a heterozygous 1-bp deletion (17137delG) in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene (612971.0002). No second mutant allele was detected in GPR98 or PDZD7. His unaffected sister was heterozygous for the PDZD7 mutation but did not carry the GPR98 mutation, which was also not found in 50 controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Besnard, T., Vache, C., Baux, D., Larrieu, L., Abadie, C., Blanchet, C., Odent, S., Blanchet, P., Calvas, P., Hamel, C., Dollfus, H., Lina-Granade, G., Lespinasse, J., David, A., Isidor, B., Morin, G., Malcolm, S., Tuffery-Giraud, S., Claustres, M., Roux, A.-F.
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|
<strong>Non-USH2A mutations in USH2 patients.</strong>
|
|
Hum. Mutat. 33: 504-510, 2012.
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[PubMed: 22147658]
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[Full Text: https://doi.org/10.1002/humu.22004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Ebermann, I., Phillips, J. B., Liebau, M. C., Koenekoop, R. K., Schermer, B., Lopez, I., Schafer, E., Roux, A.-F., Dafinger, C., Bernd, A., Zrenner, E., Claustres, M., Blanco, B., Nurnberg, G., Nurnberg, P., Ruland, R., Westerfield, M., Benzing, T., Bolz, H. J.
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|
<strong>PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.</strong>
|
|
J. Clin. Invest. 120: 1812-1823, 2010. Note: Erratum: J. Clin. Invest. 121: 821 only, 2011.
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[PubMed: 20440071]
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[Full Text: https://doi.org/10.1172/JCI39715]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Ebermann, I., Wiesen, M. H. J., Zrenner, E., Lopez, I., Pigeon, R., Kohl, S., Lowenheim, H., Koenekoop, R. K., Bolz, H. J.
|
|
<strong>GPR98 mutations cause Usher syndrome type 2 in males.</strong>
|
|
J. Med. Genet. 46: 277-280, 2009.
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[PubMed: 19357117]
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[Full Text: https://doi.org/10.1136/jmg.2008.059626]
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<p class="mim-text-font">
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Guan, Y., Du, H. B., Yang, Z., Wang, Y. Z., Ren, R., Liu, W. W., Zhang, C., Zhang, J. H., An, W. T., Li, N. N., Zeng, X. X., Li, J., and 10 others.
|
|
<strong>Deafness-associated ADGRV1 mutation impairs USH2A stability through improper phosphorylation of WHRN and WDSUB1 recruitment.</strong>
|
|
Adv. Sci. (Weinh.) 10: e2205993, 2023.
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[PubMed: 37066759]
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[Full Text: https://doi.org/10.1002/advs.202205993]
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<p class="mim-text-font">
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Han, J. Y., Lee, H. J., Lee, Y.-M., Park, J.
|
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<strong>Identification of missense ADGRV1 mutation as a candidate genetic cause of familial febrile seizure 4.</strong>
|
|
Children (Basel) 7: 144, 2020. Note: Electronic Article.
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[PubMed: 32962041]
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[Full Text: https://doi.org/10.3390/children7090144]
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</p>
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<li>
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<p class="mim-text-font">
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Hilgert, N., Kahrizi, K., Dieltjens, N., Bazazzadegan, N., Najmabadi, H., Smith, R. J. H., Van Camp, G.
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<strong>A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.</strong>
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J. Med. Genet. 46: 272-276, 2009.
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[PubMed: 19357116]
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[Full Text: https://doi.org/10.1136/jmg.2008.060947]
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</p>
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<li>
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<p class="mim-text-font">
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Hmani, M., Ghorbel, A., Boulila-Elgaied, A., Ben Zina, Z., Kammoun, W., Drira, M., Chaabouni, M., Petit, C., Ayadi, H.
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<strong>A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.</strong>
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Europ. J. Hum. Genet. 7: 363-367, 1999.
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[PubMed: 10234513]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200307]
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<p class="mim-text-font">
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Hmani-Aifa, M., Benzina, Z., Zulfiqar, F., Dhouib, H., Shahzadi, A., Ghorbel, A., Rebai, A., Soderkvist, P., Riazuddin, S., Kimberling, W. J., Ayadi, H.
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<strong>Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.</strong>
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Europ. J. Hum. Genet. 17: 474-482, 2009.
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[PubMed: 18854872]
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[Full Text: https://doi.org/10.1038/ejhg.2008.167]
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<p class="mim-text-font">
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Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 5: 169-176, 1998.
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[PubMed: 9734811]
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[Full Text: https://doi.org/10.1093/dnares/5.3.169]
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<li>
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<p class="mim-text-font">
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Johnson, K. R., Zheng, Q. Y., Weston, M. D., Ptacek, L. J., Noben-Trauth, K.
|
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<strong>The Mass1-frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.</strong>
|
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Genomics 85: 582-590, 2005.
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[PubMed: 15820310]
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[Full Text: https://doi.org/10.1016/j.ygeno.2005.02.006]
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</li>
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<li>
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<p class="mim-text-font">
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McMillan, D. R., Kayes-Wandover, K. M., Richardson, J. A., White, P. C.
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<strong>Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system.</strong>
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J. Biol. Chem. 277: 785-792, 2002.
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[PubMed: 11606593]
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[Full Text: https://doi.org/10.1074/jbc.M108929200]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Nakayama, J., Fu, Y.-H., Clark, A. M., Nakahara, S., Hamano, K., Iwasaki, N., Matsui, A., Arinami, T., Ptacek, L. J.
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<strong>A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.</strong>
|
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Ann. Neurol. 52: 654-657, 2002.
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[PubMed: 12402266]
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[Full Text: https://doi.org/10.1002/ana.10347]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Nikkila, H., McMillan, D. R., Nunez, B. S., Pascoe, L., Curnow, K. M., White, P. C.
|
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<strong>Sequence similarities between a novel putative G protein-coupled receptor and Na(+)/Ca(2+) exchangers define a cation binding domain.</strong>
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Molec. Endocr. 14: 1351-1364, 2000.
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[PubMed: 10976914]
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[Full Text: https://doi.org/10.1210/mend.14.9.0511]
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</p>
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<li>
|
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<p class="mim-text-font">
|
|
Scheel, H., Tomiuk, S., Hofmann, K.
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<strong>A common protein interaction domain links two recently identified epilepsy genes.</strong>
|
|
Hum. Molec. Genet. 11: 1757-1762, 2002.
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[PubMed: 12095917]
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[Full Text: https://doi.org/10.1093/hmg/11.15.1757]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Skradski, S. L., Clark, A. M., Jiang, H., White, H. S., Fu, Y.-H., Ptacek, L. J.
|
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<strong>A novel gene causing a mendelian audiogenic mouse epilepsy.</strong>
|
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Neuron 31: 537-544, 2001.
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[PubMed: 11545713]
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[Full Text: https://doi.org/10.1016/s0896-6273(01)00397-x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Skradski, S. L., White, H. S., Ptacek, L. J.
|
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<strong>Genetic mapping of a locus (mass1) causing audiogenic seizures in mice.</strong>
|
|
Genomics 49: 188-192, 1998.
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[PubMed: 9598305]
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[Full Text: https://doi.org/10.1006/geno.1998.5229]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Weston, M. D., Luijendijk, M. W. J., Humphrey, K. D., Moller, C., Kimberling, W. J.
|
|
<strong>Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.</strong>
|
|
Am. J. Hum. Genet. 74: 357-366, 2004. Note: Am. J. Hum. Genet. 74: 1080 only, 2004. Note: Erratum: Am. J. Hum. Genet. 74: 1080 only, 2004.
|
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[PubMed: 14740321]
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[Full Text: https://doi.org/10.1086/381685]
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</p>
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</li>
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</ol>
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<div>
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<br />
|
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
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</span>
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</div>
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Bao Lige - updated : 08/27/2024<br>Hilary J. Vernon - updated : 04/02/2021<br>Marla J. F. O'Neill - updated : 6/8/2012<br>Marla J. F. O'Neill - updated : 5/3/2011<br>Cassandra L. Kniffin - updated : 5/21/2009<br>Cassandra L. Kniffin - updated : 4/16/2009<br>Patricia A. Hartz - updated : 7/15/2005<br>Victor A. McKusick - updated : 1/30/2004<br>George E. Tiller - updated : 6/19/2003<br>Victor A. McKusick - updated : 12/27/2002<br>Paul J. Converse - updated : 2/13/2002<br>Victor A. McKusick - updated : 1/14/2002
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Victor A. McKusick : 7/15/1998
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