3973 lines
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- *300839 - RETINOSCHISIN; RS1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300839</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300839">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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="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=ENSG00000102104;t=ENST00000379984" 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=6247" 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=300839" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000102104;t=ENST00000379984" 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_000330,XM_047442337" 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_000330" 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=300839" 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://www.proteinatlas.org/search/RS1" 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/3169695,3172129,6686080,10835083,90110522,117572625,119619348,2217393534,2462630448" 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/O15537" 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=6247" 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=ENSG00000102104;t=ENST00000379984" 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=RS1" 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=RS1" 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+6247" 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/RS1" 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:6247" 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/6247" 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=chrX&hgg_gene=ENST00000379984.4&hgg_start=18639688&hgg_end=18672108&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:10457" 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:10457" 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=300839[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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<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=300839[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/RS1/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/ENSG00000102104" 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=RS1" 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=RS1" 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=RS1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=RS1&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/PA34871" 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:10457" 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:1336189" 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/RS1#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:1336189" 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/6247/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=6247" 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-040801-171" 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=RS1&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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<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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<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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300839
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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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RETINOSCHISIN; RS1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=RS1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RS1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/X/100?start=-3&limit=10&highlight=100">Xp22.13</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:18639688-18672108&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'})">X:18,639,688-18,672,108</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/X/100?start=-3&limit=10&highlight=100">
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Xp22.13
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Retinoschisis
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/312700"> 312700 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/300839" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/300839" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The RS1 gene encodes retinoschisin, a secretory discoidin-domain protein expressed exclusively in retina that functions as an octamer and is implicated in cell-cell interactions and cell adhesion (summary by <a href="#14" class="mim-tip-reference" title="Sikkink, S. K., Biswas, S., Parry, N. R. A., Stanga, P. E., Trump, D. <strong>X-linked retinoschisis: an update.</strong> J. Med. Genet. 44: 225-232, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17172462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17172462</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17172462[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.2006.047340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17172462">Sikkink et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17172462" 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>
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<p>By mapping and expression analysis of expressed sequence tags (ESTs), <a href="#12" class="mim-tip-reference" title="Sauer, C. G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B., Weber, B. H. F. <strong>Positional cloning of the gene associated with X-linked juvenile retinoschisis.</strong> Nature Genet. 17: 164-170, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326935</a>] [<a href="https://doi.org/10.1038/ng1097-164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9326935">Sauer et al. (1997)</a> identified a novel transcript, which they designated XLRS1, within the centromeric portion of the RS interval, and which was expressed exclusively in retina. The RS gene (XLRS1) encodes a 224-amino acid protein, processed by N-terminal cleavage into a mature protein with a calculated size of 23 kD (201 amino acids). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326935" 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 LacZ reporter analysis and in situ hybridization, <a href="#9" class="mim-tip-reference" title="Liu, Y., Kinoshita, J., Ivanova, E., Sun, D., Li, H., Liao, T., Cao, J., Bell, B. A., Wang, J. M., Tang, Y., Brydges, S., Peachey, N. S., Sagdullaev, B. T., Romano, C. <strong>Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype.</strong> Hum. Molec. Genet. 28: 3072-3090, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31174210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31174210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31174210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddz122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31174210">Liu et al. (2019)</a> showed that Rs1 was expressed primarily in photoreceptors of mice. Immunohistochemical analysis confirmed that Rs1 was present throughout mouse retina as a secreted protein, with prominent labeling in photoreceptor inner segments. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31174210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#12" class="mim-tip-reference" title="Sauer, C. G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B., Weber, B. H. F. <strong>Positional cloning of the gene associated with X-linked juvenile retinoschisis.</strong> Nature Genet. 17: 164-170, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326935</a>] [<a href="https://doi.org/10.1038/ng1097-164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9326935">Sauer et al. (1997)</a> determined that the RS1 gene is composed of 6 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326935" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#12" class="mim-tip-reference" title="Sauer, C. G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B., Weber, B. H. F. <strong>Positional cloning of the gene associated with X-linked juvenile retinoschisis.</strong> Nature Genet. 17: 164-170, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326935</a>] [<a href="https://doi.org/10.1038/ng1097-164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9326935">Sauer et al. (1997)</a> identified the RS1 gene within the X-linked retinoschisis (<a href="/entry/312700">312700</a>) candidate region on chromosome Xp22.2 by positional cloning. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326935" 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 humans, the proportion of male to female offspring at birth (the secondary sex ratio; SSR) is not 1:1, as would be expected from the equal number of X- and Y-bearing spermatozoa produced by males. The SSR is shifted slightly toward males with 5 to 7% more males than females being born, resulting in a value of 105-107. The primary sex ratio, i.e., the male/female rate at conception, is even more skewed than the SSR. It has been reported that the male/female ratio is 130/100 among spontaneously aborted, anatomically normal fetuses (<a href="#1" class="mim-tip-reference" title="Byrne, J., Warburton, D. <strong>Male excess among anatomically normal fetuses in spontaneous abortions.</strong> Am. J. Med. Genet. 26: 605-611, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3565477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3565477</a>] [<a href="https://doi.org/10.1002/ajmg.1320260315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3565477">Byrne and Warburton, 1987</a>). In the 1960s it was noted that female carriers of the juvenile retinoschisis gene tended to have more sons than daughters. <a href="#2" class="mim-tip-reference" title="Eriksson, A. W., Vainio-Mattila, B., Krause, U., Fellman, J., Forsius, H. <strong>Secondary sex ratio in families with X-chromosomal disorders.</strong> Hereditas 57: 373-381, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5300975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5300975</a>] [<a href="https://doi.org/10.1111/j.1601-5223.1967.tb02122.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5300975">Eriksson et al. (1967)</a> studied 42 sibships and obtained an SSR value of 138. The designation of carrier status was based on information from pedigrees, that is, the carrier had either an affected father or an affected son. To investigate the matter further, <a href="#7" class="mim-tip-reference" title="Huopaniemi, L., Fellman, J., Rantala, A., Eriksson, A., Forsius, H., de la Chapelle, A., Alitalo, T. <strong>Skewed secondary sex ratio in the offspring of carriers of the 214G-A mutation of the RS1 gene.</strong> Ann. Hum. Genet. 63: 521-533, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11246454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11246454</a>] [<a href="https://doi.org/10.1017/S0003480099007812" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11246454">Huopaniemi et al. (1999)</a> performed mutation analyses to determine the carrier status of 202 females belonging to families with the Western I mutation (glu72 to lys; <a href="#0003">300839.0003</a>), the most common RS founder mutation in Finland, and analyzed the SSR of the offspring of 149 carrier females. The SSR in the offspring of the 149 carriers was 129.8, which differed significantly from that of the Finnish population (SSR = 106) but not from that of 53 noncarrier females belonging to the same pedigree (SSR = 116.7). Since possible causes for the skewed SSR include factors affecting fertilization, implantation, and embryonic deaths, <a href="#7" class="mim-tip-reference" title="Huopaniemi, L., Fellman, J., Rantala, A., Eriksson, A., Forsius, H., de la Chapelle, A., Alitalo, T. <strong>Skewed secondary sex ratio in the offspring of carriers of the 214G-A mutation of the RS1 gene.</strong> Ann. Hum. Genet. 63: 521-533, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11246454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11246454</a>] [<a href="https://doi.org/10.1017/S0003480099007812" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11246454">Huopaniemi et al. (1999)</a> searched for expression for the RS1 gene in various placental and uterine cells and found that, in addition to the retina, RS1 is expressed in the uterus. They hypothesized that the RS1 protein has a role in implantation or embryonic survival. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11246454+5300975+3565477" 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>The predicted RS1 protein sequence contains a highly conserved discoidin domain, shared with a number of other proteins (<a href="#12" class="mim-tip-reference" title="Sauer, C. G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B., Weber, B. H. F. <strong>Positional cloning of the gene associated with X-linked juvenile retinoschisis.</strong> Nature Genet. 17: 164-170, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326935</a>] [<a href="https://doi.org/10.1038/ng1097-164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9326935">Sauer et al., 1997</a>; <a href="#15" class="mim-tip-reference" title="Springer, W. R., Cooper, D. N., Barondes, S. H. <strong>Discoidin I is implicated in cell-substratum attachment and ordered cell migration of Dictyostelium discoideum and resembles fibronectin.</strong> Cell 39: 557-564, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6509552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6509552</a>] [<a href="https://doi.org/10.1016/0092-8674(84)90462-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6509552">Springer et al., 1984</a>). The <a href="#10" class="mim-tip-reference" title="Retinoschisis Consortium. <strong>Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS).</strong> Hum. Molec. Genet. 7: 1185-1192, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618178</a>] [<a href="https://doi.org/10.1093/hmg/7.7.1185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9618178">Retinoschisis Consortium (1998)</a> commented that the discoidin domain is implicated in cell-cell adhesion and phospholipid binding, a function that is in agreement with the observed splitting of the retina in retinoschisis patients, indicating that the RS gene is important during retinal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9618178+9326935+6509552" 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="Grayson, C., Reid, S. N. M., Ellis, J. A., Rutherford, A., Sowden, J. C., Yates, J. R. W., Farber, D. B., Trump, D. <strong>Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.</strong> Hum. Molec. Genet. 9: 1873-1879, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10915776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10915776</a>] [<a href="https://doi.org/10.1093/hmg/9.12.1873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10915776">Grayson et al. (2000)</a> generated a polyclonal antibody against a peptide from a unique region within retinoschisin. A screen of human tissues with this antibody revealed retinoschisin to be retina-specific. Using in situ hybridization and immunohistochemistry, they showed that the gene is expressed only in the photoreceptor layer, but the protein product is present both in the photoreceptors and within the inner portions of the retina. Furthermore, differentiated retinoblastoma cells (Weri-Rb1 cells) express RS1 mRNA and release retinoschisin. The authors suggested that retinoschisin is released by photoreceptors, has functions within the inner retinal layers, and that X-linked retinoschisis may be caused by abnormalities in a putative secreted photoreceptor protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10915776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#12" class="mim-tip-reference" title="Sauer, C. G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B., Weber, B. H. F. <strong>Positional cloning of the gene associated with X-linked juvenile retinoschisis.</strong> Nature Genet. 17: 164-170, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326935</a>] [<a href="https://doi.org/10.1038/ng1097-164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9326935">Sauer et al. (1997)</a> performed mutation analyses of XLRS1 in affected individuals from 9 unrelated X-linked retinoschisis (RS1; <a href="/entry/312700">312700</a>) families and identified 1 nonsense, 1 frameshift, 1 splice acceptor, and 6 missense mutations (e.g., <a href="#0001">300839.0001</a>) segregating with the disease phenotype in the respective families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326935" 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 60 XLRS patients who shared 27 missense mutations in RS1, <a href="#13" class="mim-tip-reference" title="Sergeev, Y. V., Caruso, R. C., Meltzer, M. R., Smaoui, N., MacDonald, I. M., Sieving, P. A. <strong>Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.</strong> Hum. Molec. Genet. 19: 1302-1313, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20061330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20061330</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20061330[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddq006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20061330">Sergeev et al. (2010)</a> evaluated possible correlations of the molecular modeling with retinal function as determined by the electroretinogram (ERG) a- and b-waves. The b/a-wave ratio reflects visual-signal transfer in retina. The majority of RS1 mutations caused minimal structural perturbations and targeted the protein surface. Maximum structural perturbations from either the removal or insertion of cysteine residues or changes in the hydrophobic core were associated with greater difference in the b/a-wave ratio with age, with a significantly smaller ratio at younger ages. The molecular modeling suggested an association between the predicted structural alteration and/or damage to retinoschisin and the severity of XLRS as measured by the ERG analogous to the RS1-knockout mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20061330" 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>For a complete discussion of the molecular genetics of this form of retinoschisis, see <a href="/entry/312700">312700</a>.</p>
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<p><a href="#9" class="mim-tip-reference" title="Liu, Y., Kinoshita, J., Ivanova, E., Sun, D., Li, H., Liao, T., Cao, J., Bell, B. A., Wang, J. M., Tang, Y., Brydges, S., Peachey, N. S., Sagdullaev, B. T., Romano, C. <strong>Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype.</strong> Hum. Molec. Genet. 28: 3072-3090, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31174210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31174210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31174210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddz122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31174210">Liu et al. (2019)</a> found that Rs1-knockout mice and 2 mouse models with missense mutations in Rs1 associated with XLRS in humans developed intraretinal schisis and reductions in ERG that were greater for the b-wave than the a-wave, recapitulating key features of human XLRS. However, the severity of the disease phenotype was genotype dependent. All 3 mouse models also had elevated patterns of spontaneous activity, resulting in disrupted detection of visual stimuli. Immunohistochemical analysis showed early abnormalities in all cells of the outer retina in all 3 mouse models. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31174210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>11 Selected Examples</a>):</strong>
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<a href="/allelicVariants/300839" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300839[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 RETINOSCHISIS 1, X-LINKED, JUVENILE</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">rs61752063 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752063;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=rs61752063" 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=rs61752063" 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=RCV000010564 OR RCV000085262 OR RCV001074398" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010564, RCV000085262, RCV001074398" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010564...</a>
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<p>In affected members of a family with X-linked juvenile retinoschisis (RS1; <a href="/entry/312700">312700</a>), <a href="#12" class="mim-tip-reference" title="Sauer, C. G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B., Weber, B. H. F. <strong>Positional cloning of the gene associated with X-linked juvenile retinoschisis.</strong> Nature Genet. 17: 164-170, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326935</a>] [<a href="https://doi.org/10.1038/ng1097-164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9326935">Sauer et al. (1997)</a> identified a T-to-C transition that changed codon 96 from TGG (trp) to CGG (arg) (W96R) in the XLRS1 gene. The family contained 6 affected males and 4 heterozygous carriers in 4 generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326935" 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>.0002 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
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RS1, ARG102TRP
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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> rs61752067 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752067;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/rs61752067?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=rs61752067" 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=rs61752067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010565 OR RCV000085268 OR RCV000210291 OR RCV004798720" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010565, RCV000085268, RCV000210291, RCV004798720" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010565...</a>
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<p>In a family with X-linked juvenile retinoschisis (RS1; <a href="/entry/312700">312700</a>), <a href="#12" class="mim-tip-reference" title="Sauer, C. G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B., Weber, B. H. F. <strong>Positional cloning of the gene associated with X-linked juvenile retinoschisis.</strong> Nature Genet. 17: 164-170, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326935</a>] [<a href="https://doi.org/10.1038/ng1097-164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9326935">Sauer et al. (1997)</a> identified a C-to-T transition in codon 102 of the XLRS1 gene, changing it from CGG (arg) to TGG (trp) (R102W). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326935" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<strong>.0003 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
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RS1, GLU72LYS
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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> rs104894928 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894928;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/rs104894928?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=rs104894928" 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=rs104894928" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010566 OR RCV000085249 OR RCV001075634 OR RCV002512960" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010566, RCV000085249, RCV001075634, RCV002512960" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010566...</a>
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<span class="mim-text-font">
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<p>In a mutation screen of the RS gene in 234 familial and sporadic retinoschisis cases, the <a href="#10" class="mim-tip-reference" title="Retinoschisis Consortium. <strong>Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS).</strong> Hum. Molec. Genet. 7: 1185-1192, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618178</a>] [<a href="https://doi.org/10.1093/hmg/7.7.1185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9618178">Retinoschisis Consortium (1998)</a> identified a G-to-A change at nucleotide 214, predicting a glu72-to-lys (E72K) mutation, in 34 cases (RS1; <a href="/entry/312700">312700</a>). This mutation was found in patients from all 6 populations studied but not in corresponding controls. Since the mutation occurred on at least 3 different haplotypes in the Dutch population, the authors concluded that it had several independent origins and was very likely to be disease-causing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9618178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0004 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
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RS1, GLU72ASP
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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> rs104894932 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894932;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/rs104894932?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=rs104894932" 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=rs104894932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010567 OR RCV000085251" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010567, RCV000085251" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010567...</a>
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<span class="mim-text-font">
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<p>In 2 of 234 familial and sporadic retinoschisis cases (RS1; <a href="/entry/312700">312700</a>), the <a href="#10" class="mim-tip-reference" title="Retinoschisis Consortium. <strong>Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS).</strong> Hum. Molec. Genet. 7: 1185-1192, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618178</a>] [<a href="https://doi.org/10.1093/hmg/7.7.1185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9618178">Retinoschisis Consortium (1998)</a> identified a G-to-C change at nucleotide 216 of the RS1 gene, predicting a glu72-to-asp mutation (E72D) in the same codon as that involved in the glu72-to-lys mutation (E72K; <a href="#0003">300839.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9618178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
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RS1, GLY74VAL
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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> rs104894933 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894933;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/rs104894933?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=rs104894933" 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=rs104894933" 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=RCV000010568 OR RCV000085254 OR RCV004814879" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010568, RCV000085254, RCV004814879" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010568...</a>
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<p><a href="#8" class="mim-tip-reference" title="Huopaniemi, L., Rantala, A., Forsius, H., Somer, M., de la Chapelle, A., Alitalo, T. <strong>Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.</strong> Europ. J. Hum. Genet. 7: 368-376, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10234514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10234514</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200300" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10234514">Huopaniemi et al. (1999)</a> found that the founder mutations glu72 to lys (E72K; <a href="#0003">300839.0003</a>) and gly74 to val (G74V) in the XLRS1 gene account for RS (RS1; <a href="/entry/312700">312700</a>) in western Finland. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10234514" 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> rs104894934 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894934;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/rs104894934?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=rs104894934" 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=rs104894934" 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=RCV000010569 OR RCV000085274" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010569, RCV000085274" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010569...</a>
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<p><a href="#8" class="mim-tip-reference" title="Huopaniemi, L., Rantala, A., Forsius, H., Somer, M., de la Chapelle, A., Alitalo, T. <strong>Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.</strong> Europ. J. Hum. Genet. 7: 368-376, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10234514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10234514</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200300" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10234514">Huopaniemi et al. (1999)</a> found that the founder mutation gly109 to arg (G109R) in the XLRS1 gene gives rise to RS (RS1; <a href="/entry/312700">312700</a>) in northern Finland. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10234514" 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>.0007 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
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RS1, LEU13PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894935 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894935;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=rs104894935" 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=rs104894935" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010570 OR RCV000085290" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010570, RCV000085290" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010570...</a>
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<p>In a patient with X-linked juvenile retinoschisis (RS1; <a href="/entry/312700">312700</a>), <a href="#6" class="mim-tip-reference" title="Hiriyanna, K. T., Bingham, E. L., Yashar, B. M., Ayyagari, R., Fishman, G., Small, K. W., Weinberg, D. V., Weleber, R. G., Lewis, R. A., Andreasson, S., Richards, J. E., Sieving, P. A. <strong>Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.</strong> Hum. Mutat. 14: 423-427, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10533068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10533068</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10533068">Hiriyanna et al. (1999)</a> found a T-to-C transition at nucleotide 38 of the RS1 gene, resulting in a leu13-to-pro (L13P) amino acid change. This missense mutation was in the predicted signal peptide of the protein, encoded by exons 1 and 2, and was expected to disrupt the folding of the signal peptide domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10533068" 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>.0008 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
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RS1, CYS223ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894929 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894929;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=rs104894929" 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=rs104894929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010571 OR RCV001385707" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010571, RCV001385707" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010571...</a>
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<p>In a patient with X-linked juvenile retinoschisis (RS1; <a href="/entry/312700">312700</a>), <a href="#6" class="mim-tip-reference" title="Hiriyanna, K. T., Bingham, E. L., Yashar, B. M., Ayyagari, R., Fishman, G., Small, K. W., Weinberg, D. V., Weleber, R. G., Lewis, R. A., Andreasson, S., Richards, J. E., Sieving, P. A. <strong>Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.</strong> Hum. Mutat. 14: 423-427, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10533068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10533068</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10533068">Hiriyanna et al. (1999)</a> found a T-to-C transition at nucleotide 667 of the RS1 gene, resulting in the conversion of cysteine-223, on the C-terminal side of the discoidin domain, to arginine (C223R). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10533068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<strong>.0009 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
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RS1, 4-BP INS
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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> rs281865342 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865342;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/rs281865342?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=rs281865342" 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=rs281865342" 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=RCV000010572 OR RCV000085239" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010572, RCV000085239" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010572...</a>
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<p><a href="#5" class="mim-tip-reference" title="Hiraoka, M., Trese, M. T., Shastry, B. S. <strong>X-linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene.</strong> Biochem. Biophys. Res. Commun. 268: 370-372, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10679210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10679210</a>] [<a href="https://doi.org/10.1006/bbrc.2000.2133" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10679210">Hiraoka et al. (2000)</a> screened 6 sporadic cases of retinoschisis for mutations in the RS1 gene. They found a mutation in only 1 family (RS1; <a href="/entry/312700">312700</a>): a 4-bp insertion at codon 55, resulting in 9 aberrant amino acid residues. The unaffected mother did not carry this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10679210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<h4>
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<strong>.0010 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
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RS1, PRO203LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894930 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894930;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=rs104894930" 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=rs104894930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010573 OR RCV000085344 OR RCV001003214 OR RCV001074001" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010573, RCV000085344, RCV001003214, RCV001074001" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010573...</a>
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<p>In a Greek family with retinoschisis (RS1; <a href="/entry/312700">312700</a>), <a href="#3" class="mim-tip-reference" title="Gehrig, A., Weber, B. H. F., Lorenz, B., Andrassi, M. <strong>First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X-linked juvenile retinoschisis.</strong> J. Med. Genet. 36: 932-934, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10636740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10636740</a>]" pmid="10636740">Gehrig et al. (1999)</a> reported a C-to-T transition at nucleotide 608 of the RS1 gene resulting in the substitution of a leucine residue for a proline at position 203 (P203L) in the discoidin domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10636740" 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>.0011 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs61752068 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752068;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/rs61752068?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=rs61752068" 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=rs61752068" 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=RCV000010574 OR RCV000085269 OR RCV001073575 OR RCV003415684" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010574, RCV000085269, RCV001073575, RCV003415684" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010574...</a>
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<p>In a 5-year-old girl with X-linked retinoschisis (RS1; <a href="/entry/312700">312700</a>), <a href="#11" class="mim-tip-reference" title="Saldana, M., Thompson, J., Monk, E., Trump, D., Long, V., Sheridan, E. <strong>X-linked retinoschisis in a female with a heterozygous RS1 missense mutation. (Letter)</strong> Am. J. Med. Genet. 143A: 608-609, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17304551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17304551</a>] [<a href="https://doi.org/10.1002/ajmg.a.31568" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17304551">Saldana et al. (2007)</a> identified a heterozygous mutation in the RS1 gene, resulting in an arg102-to-gln (R102Q) substitution in the discoidin domain likely to interfere with retinoschisin secretion. She had retinal pigmentary epithelial changes in both maculae and bilateral peripheral schisis associated with bridging vessels and vitreous veils. X-inactivation studies were uninformative. Her father, who also had the mutation, had a longstanding history of poor vision and ocular features consistent with retinoschisis. The same codon is affected in another family with the disorder (R102W; <a href="#0002">300839.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17304551" 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>REFERENCES</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320260315" target="_blank">Full Text</a>]
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<a id="Eriksson1967" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1111/j.1601-5223.1967.tb02122.x" target="_blank">Full Text</a>]
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<a id="Gehrig1999" class="mim-anchor"></a>
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Gehrig, A., Weber, B. H. F., Lorenz, B., Andrassi, M.
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<strong>First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X-linked juvenile retinoschisis.</strong>
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<a id="Grayson2000" class="mim-anchor"></a>
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Grayson, C., Reid, S. N. M., Ellis, J. A., Rutherford, A., Sowden, J. C., Yates, J. R. W., Farber, D. B., Trump, D.
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<strong>Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10915776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10915776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10915776" 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/9.12.1873" target="_blank">Full Text</a>]
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<a id="Hiraoka2000" class="mim-anchor"></a>
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Hiraoka, M., Trese, M. T., Shastry, B. S.
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<strong>X-linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene.</strong>
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Biochem. Biophys. Res. Commun. 268: 370-372, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10679210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10679210</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10679210" 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/bbrc.2000.2133" target="_blank">Full Text</a>]
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<a id="Hiriyanna1999" class="mim-anchor"></a>
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Hiriyanna, K. T., Bingham, E. L., Yashar, B. M., Ayyagari, R., Fishman, G., Small, K. W., Weinberg, D. V., Weleber, R. G., Lewis, R. A., Andreasson, S., Richards, J. E., Sieving, P. A.
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<strong>Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10533068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10533068</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10533068" 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/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D" target="_blank">Full Text</a>]
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Huopaniemi, L., Fellman, J., Rantala, A., Eriksson, A., Forsius, H., de la Chapelle, A., Alitalo, T.
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<strong>Skewed secondary sex ratio in the offspring of carriers of the 214G-A mutation of the RS1 gene.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11246454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11246454</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11246454" 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/10.1017/S0003480099007812" target="_blank">Full Text</a>]
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Huopaniemi, L., Rantala, A., Forsius, H., Somer, M., de la Chapelle, A., Alitalo, T.
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<strong>Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.</strong>
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Europ. J. Hum. Genet. 7: 368-376, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10234514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10234514</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10234514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200300" target="_blank">Full Text</a>]
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<a id="Liu2019" class="mim-anchor"></a>
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Liu, Y., Kinoshita, J., Ivanova, E., Sun, D., Li, H., Liao, T., Cao, J., Bell, B. A., Wang, J. M., Tang, Y., Brydges, S., Peachey, N. S., Sagdullaev, B. T., Romano, C.
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<strong>Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype.</strong>
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Hum. Molec. Genet. 28: 3072-3090, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31174210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31174210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31174210[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=31174210" 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/ddz122" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="{Retinoschisis Consortium}1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Retinoschisis Consortium.
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<strong>Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS).</strong>
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Hum. Molec. Genet. 7: 1185-1192, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618178</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9618178" 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/7.7.1185" target="_blank">Full Text</a>]
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<a id="Saldana2007" class="mim-anchor"></a>
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Saldana, M., Thompson, J., Monk, E., Trump, D., Long, V., Sheridan, E.
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<strong>X-linked retinoschisis in a female with a heterozygous RS1 missense mutation. (Letter)</strong>
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Am. J. Med. Genet. 143A: 608-609, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17304551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17304551</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17304551" 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/ajmg.a.31568" target="_blank">Full Text</a>]
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Sauer, C. G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B., Weber, B. H. F.
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<strong>Positional cloning of the gene associated with X-linked juvenile retinoschisis.</strong>
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Nature Genet. 17: 164-170, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326935</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326935" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1097-164" target="_blank">Full Text</a>]
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<a id="Sergeev2010" class="mim-anchor"></a>
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Sergeev, Y. V., Caruso, R. C., Meltzer, M. R., Smaoui, N., MacDonald, I. M., Sieving, P. A.
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<strong>Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.</strong>
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Hum. Molec. Genet. 19: 1302-1313, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20061330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20061330</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20061330[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=20061330" 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/ddq006" 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="14" class="mim-anchor"></a>
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<a id="Sikkink2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sikkink, S. K., Biswas, S., Parry, N. R. A., Stanga, P. E., Trump, D.
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<strong>X-linked retinoschisis: an update.</strong>
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J. Med. Genet. 44: 225-232, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17172462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17172462</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17172462[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=17172462" 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.2006.047340" 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="15" class="mim-anchor"></a>
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<a id="Springer1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Springer, W. R., Cooper, D. N., Barondes, S. H.
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<strong>Discoidin I is implicated in cell-substratum attachment and ordered cell migration of Dictyostelium discoideum and resembles fibronectin.</strong>
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Cell 39: 557-564, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6509552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6509552</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6509552" 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/10.1016/0092-8674(84)90462-8" target="_blank">Full Text</a>]
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</ol>
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 01/05/2022
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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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George E. Tiller - updated : 11/14/2011
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</span>
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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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Anne M. Stumpf : 3/29/2011
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</span>
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</div>
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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 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 : 01/05/2022
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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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joanna : 11/26/2018<br>carol : 03/02/2017<br>carol : 02/28/2017<br>alopez : 02/14/2012<br>terry : 2/9/2012<br>carol : 11/15/2011<br>terry : 11/14/2011<br>alopez : 4/4/2011<br>alopez : 3/30/2011<br>alopez : 3/30/2011<br>alopez : 3/29/2011
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<h3>
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<span class="mim-font">
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<strong>*</strong> 300839
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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RETINOSCHISIN; RS1
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</span>
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</h3>
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</div>
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<br />
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: RS1</em></strong>
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</span>
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<strong>
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<em>
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Cytogenetic location: Xp22.13
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Genomic coordinates <span class="small">(GRCh38)</span> : X:18,639,688-18,672,108 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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</th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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Xp22.13
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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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Retinoschisis
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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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312700
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<td>
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<span class="mim-font">
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X-linked recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tbody>
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</table>
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<br />
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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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<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>The RS1 gene encodes retinoschisin, a secretory discoidin-domain protein expressed exclusively in retina that functions as an octamer and is implicated in cell-cell interactions and cell adhesion (summary by Sikkink et al., 2007). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By mapping and expression analysis of expressed sequence tags (ESTs), Sauer et al. (1997) identified a novel transcript, which they designated XLRS1, within the centromeric portion of the RS interval, and which was expressed exclusively in retina. The RS gene (XLRS1) encodes a 224-amino acid protein, processed by N-terminal cleavage into a mature protein with a calculated size of 23 kD (201 amino acids). </p><p>Using LacZ reporter analysis and in situ hybridization, Liu et al. (2019) showed that Rs1 was expressed primarily in photoreceptors of mice. Immunohistochemical analysis confirmed that Rs1 was present throughout mouse retina as a secreted protein, with prominent labeling in photoreceptor inner segments. </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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<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>Sauer et al. (1997) determined that the RS1 gene is composed of 6 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sauer et al. (1997) identified the RS1 gene within the X-linked retinoschisis (312700) candidate region on chromosome Xp22.2 by positional cloning. </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>In humans, the proportion of male to female offspring at birth (the secondary sex ratio; SSR) is not 1:1, as would be expected from the equal number of X- and Y-bearing spermatozoa produced by males. The SSR is shifted slightly toward males with 5 to 7% more males than females being born, resulting in a value of 105-107. The primary sex ratio, i.e., the male/female rate at conception, is even more skewed than the SSR. It has been reported that the male/female ratio is 130/100 among spontaneously aborted, anatomically normal fetuses (Byrne and Warburton, 1987). In the 1960s it was noted that female carriers of the juvenile retinoschisis gene tended to have more sons than daughters. Eriksson et al. (1967) studied 42 sibships and obtained an SSR value of 138. The designation of carrier status was based on information from pedigrees, that is, the carrier had either an affected father or an affected son. To investigate the matter further, Huopaniemi et al. (1999) performed mutation analyses to determine the carrier status of 202 females belonging to families with the Western I mutation (glu72 to lys; 300839.0003), the most common RS founder mutation in Finland, and analyzed the SSR of the offspring of 149 carrier females. The SSR in the offspring of the 149 carriers was 129.8, which differed significantly from that of the Finnish population (SSR = 106) but not from that of 53 noncarrier females belonging to the same pedigree (SSR = 116.7). Since possible causes for the skewed SSR include factors affecting fertilization, implantation, and embryonic deaths, Huopaniemi et al. (1999) searched for expression for the RS1 gene in various placental and uterine cells and found that, in addition to the retina, RS1 is expressed in the uterus. They hypothesized that the RS1 protein has a role in implantation or embryonic survival. </p><p>The predicted RS1 protein sequence contains a highly conserved discoidin domain, shared with a number of other proteins (Sauer et al., 1997; Springer et al., 1984). The Retinoschisis Consortium (1998) commented that the discoidin domain is implicated in cell-cell adhesion and phospholipid binding, a function that is in agreement with the observed splitting of the retina in retinoschisis patients, indicating that the RS gene is important during retinal development. </p><p>Grayson et al. (2000) generated a polyclonal antibody against a peptide from a unique region within retinoschisin. A screen of human tissues with this antibody revealed retinoschisin to be retina-specific. Using in situ hybridization and immunohistochemistry, they showed that the gene is expressed only in the photoreceptor layer, but the protein product is present both in the photoreceptors and within the inner portions of the retina. Furthermore, differentiated retinoblastoma cells (Weri-Rb1 cells) express RS1 mRNA and release retinoschisin. The authors suggested that retinoschisin is released by photoreceptors, has functions within the inner retinal layers, and that X-linked retinoschisis may be caused by abnormalities in a putative secreted photoreceptor protein. </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>Sauer et al. (1997) performed mutation analyses of XLRS1 in affected individuals from 9 unrelated X-linked retinoschisis (RS1; 312700) families and identified 1 nonsense, 1 frameshift, 1 splice acceptor, and 6 missense mutations (e.g., 300839.0001) segregating with the disease phenotype in the respective families. </p><p>In 60 XLRS patients who shared 27 missense mutations in RS1, Sergeev et al. (2010) evaluated possible correlations of the molecular modeling with retinal function as determined by the electroretinogram (ERG) a- and b-waves. The b/a-wave ratio reflects visual-signal transfer in retina. The majority of RS1 mutations caused minimal structural perturbations and targeted the protein surface. Maximum structural perturbations from either the removal or insertion of cysteine residues or changes in the hydrophobic core were associated with greater difference in the b/a-wave ratio with age, with a significantly smaller ratio at younger ages. The molecular modeling suggested an association between the predicted structural alteration and/or damage to retinoschisin and the severity of XLRS as measured by the ERG analogous to the RS1-knockout mouse. </p><p>For a complete discussion of the molecular genetics of this form of retinoschisis, see 312700.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Liu et al. (2019) found that Rs1-knockout mice and 2 mouse models with missense mutations in Rs1 associated with XLRS in humans developed intraretinal schisis and reductions in ERG that were greater for the b-wave than the a-wave, recapitulating key features of human XLRS. However, the severity of the disease phenotype was genotype dependent. All 3 mouse models also had elevated patterns of spontaneous activity, resulting in disrupted detection of visual stimuli. Immunohistochemical analysis showed early abnormalities in all cells of the outer retina in all 3 mouse models. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>11 Selected Examples):</strong>
|
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 RETINOSCHISIS 1, X-LINKED, JUVENILE</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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RS1, TRP96ARG
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<br />
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SNP: rs61752063,
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ClinVar: RCV000010564, RCV000085262, RCV001074398
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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 X-linked juvenile retinoschisis (RS1; 312700), Sauer et al. (1997) identified a T-to-C transition that changed codon 96 from TGG (trp) to CGG (arg) (W96R) in the XLRS1 gene. The family contained 6 affected males and 4 heterozygous carriers in 4 generations. </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 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
RS1, ARG102TRP
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<br />
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|
|
|
SNP: rs61752067,
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|
|
|
|
|
gnomAD: rs61752067,
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|
|
|
|
|
ClinVar: RCV000010565, RCV000085268, RCV000210291, RCV004798720
|
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|
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|
|
</span>
|
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</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with X-linked juvenile retinoschisis (RS1; 312700), Sauer et al. (1997) identified a C-to-T transition in codon 102 of the XLRS1 gene, changing it from CGG (arg) to TGG (trp) (R102W). </p>
|
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</span>
|
|
</div>
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<div>
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<br />
|
|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
RS1, GLU72LYS
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|
<br />
|
|
|
|
SNP: rs104894928,
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|
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|
|
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gnomAD: rs104894928,
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|
|
|
|
|
ClinVar: RCV000010566, RCV000085249, RCV001075634, RCV002512960
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a mutation screen of the RS gene in 234 familial and sporadic retinoschisis cases, the Retinoschisis Consortium (1998) identified a G-to-A change at nucleotide 214, predicting a glu72-to-lys (E72K) mutation, in 34 cases (RS1; 312700). This mutation was found in patients from all 6 populations studied but not in corresponding controls. Since the mutation occurred on at least 3 different haplotypes in the Dutch population, the authors concluded that it had several independent origins and was very likely to be disease-causing. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
<div>
|
|
<span class="mim-text-font">
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|
|
|
RS1, GLU72ASP
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|
<br />
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|
|
|
SNP: rs104894932,
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|
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|
|
|
gnomAD: rs104894932,
|
|
|
|
|
|
ClinVar: RCV000010567, RCV000085251
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 of 234 familial and sporadic retinoschisis cases (RS1; 312700), the Retinoschisis Consortium (1998) identified a G-to-C change at nucleotide 216 of the RS1 gene, predicting a glu72-to-asp mutation (E72D) in the same codon as that involved in the glu72-to-lys mutation (E72K; 300839.0003). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RS1, GLY74VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894933,
|
|
|
|
|
|
gnomAD: rs104894933,
|
|
|
|
|
|
ClinVar: RCV000010568, RCV000085254, RCV004814879
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Huopaniemi et al. (1999) found that the founder mutations glu72 to lys (E72K; 300839.0003) and gly74 to val (G74V) in the XLRS1 gene account for RS (RS1; 312700) in western Finland. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RS1, GLY109ARG
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|
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|
|
|
<br />
|
|
|
|
SNP: rs104894934,
|
|
|
|
|
|
gnomAD: rs104894934,
|
|
|
|
|
|
ClinVar: RCV000010569, RCV000085274
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Huopaniemi et al. (1999) found that the founder mutation gly109 to arg (G109R) in the XLRS1 gene gives rise to RS (RS1; 312700) in northern Finland. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RS1, LEU13PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894935,
|
|
|
|
|
|
|
|
ClinVar: RCV000010570, RCV000085290
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with X-linked juvenile retinoschisis (RS1; 312700), Hiriyanna et al. (1999) found a T-to-C transition at nucleotide 38 of the RS1 gene, resulting in a leu13-to-pro (L13P) amino acid change. This missense mutation was in the predicted signal peptide of the protein, encoded by exons 1 and 2, and was expected to disrupt the folding of the signal peptide domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RS1, CYS223ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894929,
|
|
|
|
|
|
|
|
ClinVar: RCV000010571, RCV001385707
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with X-linked juvenile retinoschisis (RS1; 312700), Hiriyanna et al. (1999) found a T-to-C transition at nucleotide 667 of the RS1 gene, resulting in the conversion of cysteine-223, on the C-terminal side of the discoidin domain, to arginine (C223R). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RS1, 4-BP INS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281865342,
|
|
|
|
|
|
gnomAD: rs281865342,
|
|
|
|
|
|
ClinVar: RCV000010572, RCV000085239
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hiraoka et al. (2000) screened 6 sporadic cases of retinoschisis for mutations in the RS1 gene. They found a mutation in only 1 family (RS1; 312700): a 4-bp insertion at codon 55, resulting in 9 aberrant amino acid residues. The unaffected mother did not carry this mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RS1, PRO203LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894930,
|
|
|
|
|
|
|
|
ClinVar: RCV000010573, RCV000085344, RCV001003214, RCV001074001
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Greek family with retinoschisis (RS1; 312700), Gehrig et al. (1999) reported a C-to-T transition at nucleotide 608 of the RS1 gene resulting in the substitution of a leucine residue for a proline at position 203 (P203L) in the discoidin domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 RETINOSCHISIS 1, X-LINKED, JUVENILE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RS1, ARG102GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs61752068,
|
|
|
|
|
|
gnomAD: rs61752068,
|
|
|
|
|
|
ClinVar: RCV000010574, RCV000085269, RCV001073575, RCV003415684
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 5-year-old girl with X-linked retinoschisis (RS1; 312700), Saldana et al. (2007) identified a heterozygous mutation in the RS1 gene, resulting in an arg102-to-gln (R102Q) substitution in the discoidin domain likely to interfere with retinoschisin secretion. She had retinal pigmentary epithelial changes in both maculae and bilateral peripheral schisis associated with bridging vessels and vitreous veils. X-inactivation studies were uninformative. Her father, who also had the mutation, had a longstanding history of poor vision and ocular features consistent with retinoschisis. The same codon is affected in another family with the disorder (R102W; 300839.0002). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Byrne, J., Warburton, D.
|
|
<strong>Male excess among anatomically normal fetuses in spontaneous abortions.</strong>
|
|
Am. J. Med. Genet. 26: 605-611, 1987.
|
|
|
|
|
|
[PubMed: 3565477]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320260315]
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Eriksson, A. W., Vainio-Mattila, B., Krause, U., Fellman, J., Forsius, H.
|
|
<strong>Secondary sex ratio in families with X-chromosomal disorders.</strong>
|
|
Hereditas 57: 373-381, 1967.
|
|
|
|
|
|
[PubMed: 5300975]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1601-5223.1967.tb02122.x]
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gehrig, A., Weber, B. H. F., Lorenz, B., Andrassi, M.
|
|
<strong>First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X-linked juvenile retinoschisis.</strong>
|
|
J. Med. Genet. 36: 932-934, 1999.
|
|
|
|
|
|
[PubMed: 10636740]
|
|
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Grayson, C., Reid, S. N. M., Ellis, J. A., Rutherford, A., Sowden, J. C., Yates, J. R. W., Farber, D. B., Trump, D.
|
|
<strong>Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.</strong>
|
|
Hum. Molec. Genet. 9: 1873-1879, 2000.
|
|
|
|
|
|
[PubMed: 10915776]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/9.12.1873]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hiraoka, M., Trese, M. T., Shastry, B. S.
|
|
<strong>X-linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene.</strong>
|
|
Biochem. Biophys. Res. Commun. 268: 370-372, 2000.
|
|
|
|
|
|
[PubMed: 10679210]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.2000.2133]
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hiriyanna, K. T., Bingham, E. L., Yashar, B. M., Ayyagari, R., Fishman, G., Small, K. W., Weinberg, D. V., Weleber, R. G., Lewis, R. A., Andreasson, S., Richards, J. E., Sieving, P. A.
|
|
<strong>Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.</strong>
|
|
Hum. Mutat. 14: 423-427, 1999.
|
|
|
|
|
|
[PubMed: 10533068]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huopaniemi, L., Fellman, J., Rantala, A., Eriksson, A., Forsius, H., de la Chapelle, A., Alitalo, T.
|
|
<strong>Skewed secondary sex ratio in the offspring of carriers of the 214G-A mutation of the RS1 gene.</strong>
|
|
Ann. Hum. Genet. 63: 521-533, 1999.
|
|
|
|
|
|
[PubMed: 11246454]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1017/S0003480099007812]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huopaniemi, L., Rantala, A., Forsius, H., Somer, M., de la Chapelle, A., Alitalo, T.
|
|
<strong>Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.</strong>
|
|
Europ. J. Hum. Genet. 7: 368-376, 1999.
|
|
|
|
|
|
[PubMed: 10234514]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200300]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liu, Y., Kinoshita, J., Ivanova, E., Sun, D., Li, H., Liao, T., Cao, J., Bell, B. A., Wang, J. M., Tang, Y., Brydges, S., Peachey, N. S., Sagdullaev, B. T., Romano, C.
|
|
<strong>Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype.</strong>
|
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Hum. Molec. Genet. 28: 3072-3090, 2019.
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<p class="mim-text-font">
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Retinoschisis Consortium.
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<strong>Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS).</strong>
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Hum. Molec. Genet. 7: 1185-1192, 1998.
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Saldana, M., Thompson, J., Monk, E., Trump, D., Long, V., Sheridan, E.
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<strong>X-linked retinoschisis in a female with a heterozygous RS1 missense mutation. (Letter)</strong>
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Am. J. Med. Genet. 143A: 608-609, 2007.
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Sauer, C. G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B., Weber, B. H. F.
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<strong>Positional cloning of the gene associated with X-linked juvenile retinoschisis.</strong>
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Nature Genet. 17: 164-170, 1997.
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Sergeev, Y. V., Caruso, R. C., Meltzer, M. R., Smaoui, N., MacDonald, I. M., Sieving, P. A.
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<strong>Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.</strong>
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<p class="mim-text-font">
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Sikkink, S. K., Biswas, S., Parry, N. R. A., Stanga, P. E., Trump, D.
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<strong>X-linked retinoschisis: an update.</strong>
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[PubMed: 17172462]
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Springer, W. R., Cooper, D. N., Barondes, S. H.
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<strong>Discoidin I is implicated in cell-substratum attachment and ordered cell migration of Dictyostelium discoideum and resembles fibronectin.</strong>
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Cell 39: 557-564, 1984.
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[PubMed: 6509552]
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[Full Text: https://doi.org/10.1016/0092-8674(84)90462-8]
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Bao Lige - updated : 01/05/2022<br>George E. Tiller - updated : 11/14/2011
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Anne M. Stumpf : 3/29/2011
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