3880 lines
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Entry
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- *600897 - GAP JUNCTION PROTEIN, ALPHA-8; GJA8
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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">*600897</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600897">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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</li>
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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=ENSG00000121634;t=ENST00000369235" 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=2703" 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=600897" 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 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=ENSG00000121634;t=ENST00000369235" 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_005267,XM_011509417" 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_005267" 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=600897" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=02939&isoform_id=02939_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/GJA8" 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/1002999,6942064,13124697,55665147,55953076,119571311,151413345,608785297,697995473,697995475,697995477,697995479,697995481,697995483,697995485,697995487,697995489,697995491,697995493,697995495,697995497,697995499,697995501,697995503,767908985,969822267,1001946468,1327755917,2462507935" 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/P48165" 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=2703" 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=ENSG00000121634;t=ENST00000369235" 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=GJA8" 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=GJA8" 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+2703" 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/GJA8" 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:2703" 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/2703" 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=chr1&hgg_gene=ENST00000369235.2&hgg_start=147902795&hgg_end=147914486&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:4281" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600897[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=600897[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/GJA8/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/ENSG00000121634" 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=GJA8" 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=GJA8" 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=GJA8" 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="http://www.LOVD.nl/GJA8" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GJA8&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/PA28692" 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:4281" 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:99953" 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/GJA8#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:99953" 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/2703/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002735/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2703" 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-010607-3" 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=GJA8&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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600897
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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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GAP JUNCTION PROTEIN, ALPHA-8; GJA8
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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GAP JUNCTION PROTEIN, 50-KD<br />
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CONNEXIN 50; CX50<br />
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|
LENS INTRINSIC MEMBRANE PROTEIN MP70; MP70
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</span>
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GJA8" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GJA8</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/1/1039?start=-3&limit=10&highlight=1039">1q21.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:147902795-147914486&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'})">1:147,902,795-147,914,486</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/1/1039?start=-3&limit=10&highlight=1039">
|
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1q21.2
|
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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">
|
|
Cataract 1, multiple types
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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/116200"> 116200 </a>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</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">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600897" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600897" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<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">
|
|
<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.">
|
|
<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>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<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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<p>Gap junctions are made up of 2 interacting hemichannels that form communicating channels between neighboring cells. Each hemichannel contains 6 connexin subunits. GJA8 is a connexin of the ocular lens, where gap junctions maintain ionic and water balance and the transparency and optical properties of the lens (summary by <a href="#14" class="mim-tip-reference" title="Nielsen, P. A., Baruch, A., Shestopalov, V. I., Giepmans, B. N. G., Dunia, I., Benedetti, E. L., Kumar, N. M. <strong>Lens connexins alpha-3-Cx46 and alpha-8-Cx50 interact with zonula occludens protein-1 (ZO-1).</strong> Molec. Biol. Cell 14: 2470-2481, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12808044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12808044</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12808044[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/10.1091/mbc.e02-10-0637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12808044">Nielsen et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12808044" 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 the mammalian lens fiber cell membrane, 4 proteins (or their metabolic products) make up the vast majority of the total transmembrane proteins in the lens: MP19 (<a href="/entry/154045">154045</a>), MP26 (<a href="/entry/154050">154050</a>), MP46, and MP70. <a href="#4" class="mim-tip-reference" title="Church, R. L., Wang, J.-H., Steele, E. <strong>The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping.</strong> Curr. Eye Res. 14: 215-221, 1995. Note: Erratum: Curr. Eye Res. 14: 979-981, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7796604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7796604</a>] [<a href="https://doi.org/10.3109/02713689509033517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7796604">Church et al. (1995)</a> isolated and characterized a human genomic clone containing the complete coding region of lens intrinsic membrane protein MP70, or connexin-50 gap junction protein. The 1,299-bp coding region for this gene encodes a protein of 48,171 Da containing 4 transmembrane domains. The human coding region demonstrates 86% identity with the mouse Cx50 at the nucleotide level and 89% identity at the protein level. Northern blot analysis suggests that human MP70 is probably expressed only in the lens. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7796604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using Chinese hamster-human somatic cell hybrid panels, <a href="#4" class="mim-tip-reference" title="Church, R. L., Wang, J.-H., Steele, E. <strong>The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping.</strong> Curr. Eye Res. 14: 215-221, 1995. Note: Erratum: Curr. Eye Res. 14: 979-981, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7796604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7796604</a>] [<a href="https://doi.org/10.3109/02713689509033517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7796604">Church et al. (1995)</a> demonstrated that the human MP70 gene segregates with complete concordancy with human chromosome 1. They suggested that the MP70 gene may be a candidate gene for a heritable cataract, since zonular pulverulent cataract (CZP1; <a href="/entry/116200">116200</a>) had previously been assigned to the long arm of this chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7796604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a panel of somatic cell hybrids and DNAs from the European Collaborative Interspecific Backcross, <a href="#11" class="mim-tip-reference" title="Kerscher, S., Church, R. L., Boyd, Y., Lyon, M. F. <strong>Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin-beta-A3/A1), Crybb2 (crystallin-beta-B2), Gja8 (MP70), and Lim2 (MP19).</strong> Genomics 29: 445-450, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8666393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8666393</a>] [<a href="https://doi.org/10.1006/geno.1995.9983" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8666393">Kerscher et al. (1995)</a> mapped the Gja8 locus to mouse chromosome 3, 11.9 +/- 5.0 cM distal to D3Mit22. This is in a region that shows conserved synteny with proximal 1q in the human. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8666393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By fluorescence in situ hybridization, <a href="#6" class="mim-tip-reference" title="Geyer, D. D., Church, R. L., Steele, E. C., Jr., Heinzmann, C., Kojis, T. L., Klisak, I., Sparkes, R. S., Bateman, J. B. <strong>Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1.</strong> Molec. Vision 3: 13, 1997. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9479004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9479004</a>]" pmid="9479004">Geyer et al. (1997)</a> mapped the GJA8 gene to 1q21.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9479004" 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>Fiber cells of the lens are interconnected by an extensive network of gap junctions containing alpha-3 (Cx46; <a href="/entry/121015">121015</a>) and alpha-8 connexins. To determine the contribution of these connexins to lens function, <a href="#7" class="mim-tip-reference" title="Gong, X., Baldo, G. J., Kumar, N. M., Gilula, N. B., Mathias, R. T. <strong>Gap junctional coupling in lenses lacking alpha-3 connexin.</strong> Proc. Nat. Acad. Sci. 95: 15303-15308, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9860964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9860964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9860964[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.95.26.15303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9860964">Gong et al. (1998)</a> used impedance techniques to study cell-to-cell coupling in lenses from homozygous Cx46 knockout, heterozygous Cx46 knockout, and wildtype mice. Western blots and immunofluorescence data indicated that Cx50 remained at similar levels in the 3 classes of lenses, whereas Cx46 was approximately 50% of the normal level in the heterozygous lenses and absent from the homozygous knockout lenses. Moreover, the data from homozygous normal lenses suggested that a cleavage of connexins occurs abruptly between the peripheral shell of differentiating fibers and the inner core of mature fibers. The appearance of the cleaved connexins was correlated to a change in the coupling conductance. In homozygous knockout lenses, the coupling conductance of mature fibers was zero, and these fibers were depolarized by about 30 mV from normal. The differentiating fibers remained coupled, but the conductance was reduced to 30 to 35% of normal. However, the gap junctions in the differentiating fibers of homozygous Cx46 knockout lenses remained sensitive to pH. <a href="#7" class="mim-tip-reference" title="Gong, X., Baldo, G. J., Kumar, N. M., Gilula, N. B., Mathias, R. T. <strong>Gap junctional coupling in lenses lacking alpha-3 connexin.</strong> Proc. Nat. Acad. Sci. 95: 15303-15308, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9860964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9860964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9860964[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.95.26.15303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9860964">Gong et al. (1998)</a> concluded that Cx46 is necessary for the coupling of central fibers to peripheral cells, and that this coupling is essential for fiber cell homeostasis because uncoupled mature fibers depolarize and subsequently become opaque, forming a nuclear cataract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9860964" 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 coimmunoprecipitation analysis, <a href="#14" class="mim-tip-reference" title="Nielsen, P. A., Baruch, A., Shestopalov, V. I., Giepmans, B. N. G., Dunia, I., Benedetti, E. L., Kumar, N. M. <strong>Lens connexins alpha-3-Cx46 and alpha-8-Cx50 interact with zonula occludens protein-1 (ZO-1).</strong> Molec. Biol. Cell 14: 2470-2481, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12808044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12808044</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12808044[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/10.1091/mbc.e02-10-0637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12808044">Nielsen et al. (2003)</a> found that Cx46 and Cx50 interacted with the tight junction protein Zo1 (TJP1; <a href="/entry/601009">601009</a>) in mouse lens fiber cells. Mutation analysis revealed that the second PDZ domain of Zo1 interacted with C-terminal isoleucines of Cx46 and Cx50. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12808044" 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 2 distantly related branches of an 8-generation English kindred known as 'Ev.' with zonular pulverulent cataract (<a href="/entry/116200">116200</a>) that had been shown to segregate with the Duffy blood group locus on 1q (<a href="#16" class="mim-tip-reference" title="Renwick, J. H., Lawler, S. D. <strong>Probable linkage between a congenital cataract and the Duffy blood group locus.</strong> Ann. Hum. Genet. 27: 67-84, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14059288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14059288</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1963.tb00782.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14059288">Renwick and Lawler, 1963</a>), Shiels et al. (<a href="#18" class="mim-tip-reference" title="Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S. <strong>A missense mutation in the GJA8 gene underlies autosomal dominant cataract on human chromosome 1q. (Abstract)</strong> Am. J. Hum. Genet. 61 (suppl.): A21 only, 1997."None>1997</a>, <a href="#19" class="mim-tip-reference" title="Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S. <strong>A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q.</strong> Am. J. Hum. Genet. 62: 526-532, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497259</a>] [<a href="https://doi.org/10.1086/301762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497259">1998</a>) demonstrated linkage to a 20.6-cM interval between markers D1S2746 and D1S2771. Sequencing of the entire protein coding region of the GJA8 gene revealed a missense mutation (P88S; <a href="#0001">600897.0001</a>) that was not found in 50 unrelated control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14059288+9497259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Berry, V., Mackay, D., Khaliq, S., Francis, P. J., Hameed, A., Anwar, K., Mehdi, S. Q., Newbold, R. J., Ionides, A., Shiels, A., Moore, T., Bhattacharya, S. S. <strong>Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin.</strong> Hum. Genet. 105: 168-170, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10480374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10480374</a>] [<a href="https://doi.org/10.1007/s004399900094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10480374">Berry et al. (1999)</a> studied 10 affected and 5 unaffected members of a family of Pakistani origin segregating autosomal dominant congenital nonprogressive zonular nuclear pulverulent cataract and found linkage to the CZP1 locus; analysis of the GJA8 gene revealed heterozygosity for a missense mutation (E48K; <a href="#0002">600897.0002</a>) in affected individuals that was not found in 100 ethnically matched control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10480374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-generation Russian family with zonular pulverulent cataract, <a href="#15" class="mim-tip-reference" title="Polyakov, A. V., Shagina I. A., Khlebnikova, O. V., Evgrafov, O. V. <strong>Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. (Letter)</strong> Clin. Genet. 60: 476-478, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11846744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11846744</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2001.600614.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11846744">Polyakov et al. (2001)</a> identified a missense mutation in the GJA8 gene (I247M; <a href="#0003">600897.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11846744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 4-generation Iranian family segregating autosomal dominant progressive congenital nuclear cataract (<a href="/entry/116200">116200</a>), <a href="#22" class="mim-tip-reference" title="Willoughby, C. E., Arab, S., Gandhi, R., Zeinali, S., Arab, S., Luk, D., Billingsley, G., Munier, F. L., Heon, E. <strong>A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.</strong> J. Med. Genet. 40: e124, 2003. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14627691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14627691</a>] [<a href="https://doi.org/10.1136/jmg.40.11.e124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14627691">Willoughby et al. (2003)</a> identified heterozygosity for a missense mutation in the GJA8 gene (R23T; <a href="#0004">600897.0004</a>). Affected family members had bilateral congenital cataracts that progressed and required surgery in the second and third decades due to dense fetal/embryonal nuclear cataract. No other systemic or ocular defects were present, including microcornea or microphthalmia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14627691" 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="#5" class="mim-tip-reference" title="Devi, R. R., Vijayalakshmi, P. <strong>Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.</strong> Molec. Vis. 12: 190-195, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16604058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16604058</a>]" pmid="16604058">Devi and Vijayalakshmi (2006)</a> analyzed the GJA8 gene in 60 unrelated Indian patients with congenital or early childhood cataract, and identified 2 different missense mutations (<a href="#0005">600897.0005</a> and <a href="#0006">600897.0006</a>, respectively) in 2 probands from families with cataract and microcornea (<a href="/entry/116200">116200</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16604058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Danish family segregating autosomal dominant stellate nuclear cataract and microcornea, <a href="#9" class="mim-tip-reference" title="Hansen, L., Yao, W., Eiberg, H., Kjaer, K. W., Baggersen, K., Hejtmancik, J. F., Rosenberg, T. <strong>Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.</strong> Invest. Ophthal. Vis. Sci. 48: 3937-3944, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17724170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17724170</a>] [<a href="https://doi.org/10.1167/iovs.07-0013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17724170">Hansen et al. (2007)</a> identified heterozygosity for a missense mutation in the GJA8 gene (<a href="#0008">600897.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17724170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Arora, A., Minogue, P. J., Liu, X., Addison, P. K., Russel-Eggitt, I., Webster, A. R., Hunt, D. M., Ebihara, L., Beyer, E. C., Berthoud, V. M., Moore, A. T. <strong>A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.</strong> J. Med. Genet. 45: 155-160, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18006672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18006672</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18006672[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.2007.051029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18006672">Arora et al. (2008)</a> sequenced the GJA8 gene in 150 families with inherited cataract and identified heterozygosity for a missense mutation (<a href="#0007">600897.0007</a>) in a 2-generation Caucasian family segregating autosomal dominant congenital nuclear pulverulent cataract (<a href="/entry/116200">116200</a>). <a href="#10" class="mim-tip-reference" title="He, W., Li, X., Chen, J., Xu, L., Zhang, F., Dai, Q., Cui, H., Wang, D.-M., Yu, J., Hu, S., Lu, S. <strong>Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.</strong> Ophthalmic Genet. 32: 48-53, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21174522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21174522</a>] [<a href="https://doi.org/10.3109/13816810.2010.535886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21174522">He et al. (2011)</a> identified the same mutation in affected members of a 6-generation Chinese family segregating nuclear cataract as well as in 1 unaffected member of the family, suggesting incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21174522+18006672" 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="#21" class="mim-tip-reference" title="White, T. W., Goodenough, D. A., Paul, D. L. <strong>Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.</strong> J. Cell Biol. 143: 815-825, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9813099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9813099</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9813099[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/10.1083/jcb.143.3.815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9813099">White et al. (1998)</a> generated mice with a targeted deletion of the Cx50 gene. Cx50-null mice exhibited microphthalmia and nuclear cataracts. At postnatal day 14, the eyes of Cx50 knockout mice weighed 32% less than those of controls, whereas lens mass was reduced by 46%. Cx50-knockout lenses also developed zonular pulverulent cataracts, and lens abnormalities were detected by postnatal day 7. Deletion of Cx50 did not alter the amount or distribution of Cx46 or Cx43 (<a href="/entry/121014">121014</a>), a component of lens epithelial junctions. In addition, intercellular passage of tracers revealed the persistence of communication between all cell types in the Cx50-knockout lens. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9813099" 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="#20" class="mim-tip-reference" title="White, T. W. <strong>Unique and redundant connexin contributions to lens development.</strong> Science 295: 319-320, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11786642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11786642</a>] [<a href="https://doi.org/10.1126/science.1067582" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11786642">White (2002)</a> targeted replacement of Cx50 with Cx46 by genetic knockin. This replacement corrected defects in cellular differentiation and prevented cataracts, but did not restore normal growth. <a href="#20" class="mim-tip-reference" title="White, T. W. <strong>Unique and redundant connexin contributions to lens development.</strong> Science 295: 319-320, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11786642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11786642</a>] [<a href="https://doi.org/10.1126/science.1067582" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11786642">White (2002)</a> concluded that intrinsic properties of Cx50 are required for cellular growth, whereas nonspecific restoration of communication by Cx46 maintains differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11786642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Chang, B., Wang, X., Hawes, N. L., Ojakian, R., Davisson, M. T., Lo, W.-K., Gong, X. <strong>A Gja8 (Cx50) point mutation causes an alteration of alpha-3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice.</strong> Hum. Molec. Genet. 11: 507-513, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875045</a>] [<a href="https://doi.org/10.1093/hmg/11.5.507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11875045">Chang et al. (2002)</a> mapped an autosomal semi-dominant cataract (Lop10) mutation (<a href="#17" class="mim-tip-reference" title="Runge, P. E., Hawes, N. L., Heckenlively, J. R., Langley, S. H., Roderick, T. H. <strong>Autosomal dominant mouse cataract (Lop-10).</strong> Invest. Ophthal. Vis. Sci. 33: 3202-3208, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1399425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1399425</a>]" pmid="1399425">Runge et al., 1992</a>) to mouse chromosome 3 and identified a gly22-to-arg (G22R) mutation in Gja8. The alpha-8 G22R isoform is a loss-of-function mutant for alpha-8, as well as a dominant mutation for reducing the phosphorylated forms of alpha-3 connexin in vivo. Double mutant offspring between Lop10 and the Gja3-tm1 (alpha-3 -/-) mice (<a href="#8" class="mim-tip-reference" title="Gong, X., Li, E., Klier, G., Huang, Q., Wu, Y., Lei, H., Kumar, N. M., Horwitz, J., Gilula, N. B. <strong>Disruption of alpha-3 connexin gene leads to proteolysis and cataractogenesis in mice.</strong> Cell 91: 833-843, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9413992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9413992</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80471-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9413992">Gong et al., 1997</a>) showed relatively normal lens cortical fibers compared to the Lop10 mice. The authors concluded that a functional impairment of endogenous alpha-3 connexin is therefore partly responsible for cellular phenotypes in the Lop10 mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11875045+9413992+1399425" 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">rs80358200 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80358200;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=rs80358200" 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=rs80358200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an English kindred ('Ev.') with zonular pulverulent cataract (CTRCT1; <a href="/entry/116200">116200</a>) linked to the Duffy blood group locus on chromosome 1q, Shiels et al. (<a href="#18" class="mim-tip-reference" title="Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S. <strong>A missense mutation in the GJA8 gene underlies autosomal dominant cataract on human chromosome 1q. (Abstract)</strong> Am. J. Hum. Genet. 61 (suppl.): A21 only, 1997."None>1997</a>, <a href="#19" class="mim-tip-reference" title="Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S. <strong>A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q.</strong> Am. J. Hum. Genet. 62: 526-532, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497259</a>] [<a href="https://doi.org/10.1086/301762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497259">1998</a>) demonstrated a C-to-T transition in the protein-coding region of the GJA8 gene. The mutation introduced a novel MnlI restriction enzyme site. Restriction analysis confirmed that the change was present only in affected members of the pedigree; it was not detected in 50 unrelated normal chromosomes. The mutation in this family was located at nucleotide 262 and resulted in a nonconservative substitution of serine for proline at codon 88. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9497259" 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="#19" class="mim-tip-reference" title="Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S. <strong>A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q.</strong> Am. J. Hum. Genet. 62: 526-532, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497259</a>] [<a href="https://doi.org/10.1086/301762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497259">Shiels et al. (1998)</a> traced this historic family using the registers at Moorfields Eye Hospital and Great Ormond Street Hospital, both in London. Referred to as the Ev. cataract family, it had first been described, in 4 generations, by <a href="#12" class="mim-tip-reference" title="Nettleship, E. <strong>Seven new pedigrees of hereditary cataract.</strong> Trans. Ophthal. Soc. U.K. 29: 188-211, 1909."None>Nettleship (1909)</a> and then, in 6 generations, by <a href="#16" class="mim-tip-reference" title="Renwick, J. H., Lawler, S. D. <strong>Probable linkage between a congenital cataract and the Duffy blood group locus.</strong> Ann. Hum. Genet. 27: 67-84, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14059288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14059288</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1963.tb00782.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14059288">Renwick and Lawler (1963)</a>, who showed linkage to Duffy blood group. Although all of the affected family members traced in the study of <a href="#19" class="mim-tip-reference" title="Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S. <strong>A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q.</strong> Am. J. Hum. Genet. 62: 526-532, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497259</a>] [<a href="https://doi.org/10.1086/301762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497259">Shiels et al. (1998)</a> had undergone lens surgery, hospital records confirmed that the cataract usually either was present at birth or developed in infancy and that there was no family history of other ocular or systemic abnormalities. The cataract must be distinguished from the Coppock cataract, which was described in a family of that name by <a href="#13" class="mim-tip-reference" title="Nettleship, E., Ogilvie, F. M. <strong>A peculiar form of hereditary congenital cataract.</strong> Trans. Ophthal. Soc. U.K. 26: 191-207, 1906."None>Nettleship and Ogilvie (1906)</a> and has been shown to be due to mutation in a crystallin gene (see <a href="/entry/604307">604307</a>). The Coppock cataract is confined to the tiny embryonic lens, whereas the 'Ev.' cataract involves a larger fetal lens, which is more compatible in size to the nucleus of the adult lens. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14059288+9497259" 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">rs80358201 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80358201;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=rs80358201" 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=rs80358201" 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=RCV000009260" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009260" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009260</a>
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<p>In 10 affected members of a 3-generation Pakistani family with zonular nuclear pulverulent cataract linked to chromosome 1q (CTRCT1; <a href="/entry/116200">116200</a>), <a href="#2" class="mim-tip-reference" title="Berry, V., Mackay, D., Khaliq, S., Francis, P. J., Hameed, A., Anwar, K., Mehdi, S. Q., Newbold, R. J., Ionides, A., Shiels, A., Moore, T., Bhattacharya, S. S. <strong>Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin.</strong> Hum. Genet. 105: 168-170, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10480374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10480374</a>] [<a href="https://doi.org/10.1007/s004399900094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10480374">Berry et al. (1999)</a> identified a 142G-A transition in the GJA8 gene, resulting in a glu48-to-lys (E48K) substitution. The mutation was not found in 100 ethnically matched control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10480374" 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>.0003 CATARACT 1, ZONULAR PULVERULENT</strong>
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GJA8, ILE247MET
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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> rs80358202 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80358202;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/rs80358202?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=rs80358202" 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=rs80358202" 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=RCV000009261 OR RCV001253880 OR RCV004752694" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009261, RCV001253880, RCV004752694" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009261...</a>
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<p>In a mother and son from a 3-generation Russian family with zonular pulverulent cataract (CTRCT1; <a href="/entry/116200">116200</a>), <a href="#15" class="mim-tip-reference" title="Polyakov, A. V., Shagina I. A., Khlebnikova, O. V., Evgrafov, O. V. <strong>Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. (Letter)</strong> Clin. Genet. 60: 476-478, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11846744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11846744</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2001.600614.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11846744">Polyakov et al. (2001)</a> identified heterozygosity for a 741T-G transversion, resulting in an ile247-to-met (I247M) substitution in the last intracellular domain. The mutation was not found in unaffected members of the family or in 25 unrelated controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11846744" 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 CATARACT 1, NUCLEAR PROGRESSIVE</strong>
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GJA8, ARG23THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80358203 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80358203;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=rs80358203" 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=rs80358203" 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=RCV000009262" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009262" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009262</a>
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<p>In affected members of a 4-generation Iranian family segregating autosomal dominant progressive congenital nuclear cataract (CTRCT1; <a href="/entry/116200">116200</a>), <a href="#22" class="mim-tip-reference" title="Willoughby, C. E., Arab, S., Gandhi, R., Zeinali, S., Arab, S., Luk, D., Billingsley, G., Munier, F. L., Heon, E. <strong>A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.</strong> J. Med. Genet. 40: e124, 2003. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14627691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14627691</a>] [<a href="https://doi.org/10.1136/jmg.40.11.e124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14627691">Willoughby et al. (2003)</a> identified heterozygosity for a 68G-C transversion in the GJA8 gene, resulting in an arg23-to-thr (R23T) substitution at a highly conserved residue within the cytoplasmic N-terminal region at the membrane-cytoplasm boundary of the first transmembrane (M1) domain. The mutation was not found in unaffected family members or in 100 controls of mixed ethnicity or in 52 ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14627691" 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 CATARACT 1 WITH MICROCORNEA</strong>
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</span>
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GJA8, VAL44GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80358204 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80358204;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=rs80358204" 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=rs80358204" 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=RCV000009263" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009263" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009263</a>
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</span>
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<p>In an Indian father and daughter with congenital cataract and microcornea (CTRCT1; <a href="/entry/116200">116200</a>), <a href="#5" class="mim-tip-reference" title="Devi, R. R., Vijayalakshmi, P. <strong>Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.</strong> Molec. Vis. 12: 190-195, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16604058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16604058</a>]" pmid="16604058">Devi and Vijayalakshmi (2006)</a> identified heterozygosity for a 131T-A transversion in the GJA8 gene, resulting in a val44-to-glu (V44E) substitution in the first transmembrane domain. The daughter had surgery at 3 months of age for total lens opacification; her father, who had undergone cataract surgery at age 3 years, was noted to have increased axial lengths suggestive of mild myopia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16604058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 CATARACT 1, POSTERIOR SUBCAPSULAR, WITH MICROCORNEA</strong>
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</span>
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GJA8, ARG198GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80358205 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80358205;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=rs80358205" 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=rs80358205" 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=RCV000009264 OR RCV004724731" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009264, RCV004724731" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009264...</a>
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<span class="mim-text-font">
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<p>In 3 members of an Indian family with congenital cataract and microcornea (CTRCT1; <a href="/entry/116200">116200</a>), <a href="#5" class="mim-tip-reference" title="Devi, R. R., Vijayalakshmi, P. <strong>Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.</strong> Molec. Vis. 12: 190-195, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16604058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16604058</a>]" pmid="16604058">Devi and Vijayalakshmi (2006)</a> identified heterozygosity for a 593G-A transition in the GJA8 gene, resulting in an arg198-to-gln (R198Q) substitution in the second extracellular loop. The proband was a 7-year-old boy with posterior subcapsular cataract for which he underwent surgery at 4 years of age; he also had increased axial length suggestive of mild myopia. His 32-year-old mother, who was diagnosed with high myopia, had undergone cataract extraction at 10 years of age; and his maternal grandfather had cataract extraction at 22 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16604058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0007 CATARACT 1, MULTIPLE TYPES</strong>
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GJA8, ASP47ASN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434643 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434643;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=rs121434643" 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=rs121434643" 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=RCV000009265" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009265" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009265</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>In 4 affected members of a 2-generation family segregating autosomal dominant congenital nuclear pulverulent cataract (CTRCT1; <a href="/entry/116200">116200</a>), <a href="#1" class="mim-tip-reference" title="Arora, A., Minogue, P. J., Liu, X., Addison, P. K., Russel-Eggitt, I., Webster, A. R., Hunt, D. M., Ebihara, L., Beyer, E. C., Berthoud, V. M., Moore, A. T. <strong>A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.</strong> J. Med. Genet. 45: 155-160, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18006672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18006672</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18006672[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.2007.051029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18006672">Arora et al. (2008)</a> identified heterozygosity for a 139G-A transition in the coding region of the GJA8 gene, resulting in an asp470-to-asn (D47N) substitution at a conserved residue. The mutation segregated with disease in the family and was not found in 156 ethnically matched controls. Functional studies in paired oocytes injected with D47N-mutant Cx50 showed no detectable intercellular conductance; coexpression of D47N-mutant Cx50 did not inhibit gap junctional conductance of wildtype Cx50. In transiently transfected HeLa cells, wildtype Cx50 localized to appositional membranes and within the perinuclear region, whereas D47N-mutant Cx50 showed no immunostaining at appositional membranes and immunoreactivity was confined to the cytoplasm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18006672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 6-generation Chinese family segregating nuclear cataract, <a href="#10" class="mim-tip-reference" title="He, W., Li, X., Chen, J., Xu, L., Zhang, F., Dai, Q., Cui, H., Wang, D.-M., Yu, J., Hu, S., Lu, S. <strong>Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.</strong> Ophthalmic Genet. 32: 48-53, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21174522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21174522</a>] [<a href="https://doi.org/10.3109/13816810.2010.535886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21174522">He et al. (2011)</a> identified the D47N mutation in heterozygous state in all affected members and in 1 unaffected member, suggesting incomplete penetrance. The mutation led to loss of function of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21174522" 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 CATARACT 1, STELLATE NUCLEAR, WITH MICROCORNEA</strong>
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GJA8, PRO189LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515627 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515627;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=rs397515627" 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=rs397515627" 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=RCV000059334" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000059334" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000059334</a>
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<p>In a Danish mother and her 3 children with stellate nuclear cataract and microcornea (CTRCT1; <a href="/entry/116200">116200</a>), <a href="#9" class="mim-tip-reference" title="Hansen, L., Yao, W., Eiberg, H., Kjaer, K. W., Baggersen, K., Hejtmancik, J. F., Rosenberg, T. <strong>Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.</strong> Invest. Ophthal. Vis. Sci. 48: 3937-3944, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17724170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17724170</a>] [<a href="https://doi.org/10.1167/iovs.07-0013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17724170">Hansen et al. (2007)</a> identified heterozygosity for a c.565C-T transition in exon 2 of the GJA8 gene, resulting in a pro189-to-leu (P189L) substitution at a highly conserved residue in the second extracellular region. The mutation was not found in 170 ethnically matched volunteers. Examination of the 4 affected family members showed star-shaped nuclear opacities with a whitish central core; corneas were 10 mm in diameter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17724170" 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 id="Arora2008" class="mim-anchor"></a>
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Arora, A., Minogue, P. J., Liu, X., Addison, P. K., Russel-Eggitt, I., Webster, A. R., Hunt, D. M., Ebihara, L., Beyer, E. C., Berthoud, V. M., Moore, A. T.
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<strong>A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.</strong>
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J. Med. Genet. 45: 155-160, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18006672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18006672</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18006672[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=18006672" 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.2007.051029" target="_blank">Full Text</a>]
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Berry, V., Mackay, D., Khaliq, S., Francis, P. J., Hameed, A., Anwar, K., Mehdi, S. Q., Newbold, R. J., Ionides, A., Shiels, A., Moore, T., Bhattacharya, S. S.
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<strong>Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin.</strong>
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Hum. Genet. 105: 168-170, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10480374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10480374</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10480374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004399900094" target="_blank">Full Text</a>]
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<a id="Chang2002" class="mim-anchor"></a>
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Chang, B., Wang, X., Hawes, N. L., Ojakian, R., Davisson, M. T., Lo, W.-K., Gong, X.
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<strong>A Gja8 (Cx50) point mutation causes an alteration of alpha-3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice.</strong>
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Hum. Molec. Genet. 11: 507-513, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875045</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11875045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/11.5.507" target="_blank">Full Text</a>]
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<a id="Church1995" class="mim-anchor"></a>
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Church, R. L., Wang, J.-H., Steele, E.
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<strong>The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping.</strong>
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Curr. Eye Res. 14: 215-221, 1995. Note: Erratum: Curr. Eye Res. 14: 979-981, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7796604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7796604</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7796604" 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/10.3109/02713689509033517" target="_blank">Full Text</a>]
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<a id="Devi2006" class="mim-anchor"></a>
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Devi, R. R., Vijayalakshmi, P.
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<strong>Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.</strong>
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Molec. Vis. 12: 190-195, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16604058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16604058</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16604058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Geyer, D. D., Church, R. L., Steele, E. C., Jr., Heinzmann, C., Kojis, T. L., Klisak, I., Sparkes, R. S., Bateman, J. B.
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<strong>Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1.</strong>
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Molec. Vision 3: 13, 1997. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9479004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9479004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9479004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Gong1998" class="mim-anchor"></a>
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Gong, X., Baldo, G. J., Kumar, N. M., Gilula, N. B., Mathias, R. T.
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<strong>Gap junctional coupling in lenses lacking alpha-3 connexin.</strong>
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Proc. Nat. Acad. Sci. 95: 15303-15308, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9860964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9860964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9860964[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=9860964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.95.26.15303" target="_blank">Full Text</a>]
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<a id="Gong1997" class="mim-anchor"></a>
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Gong, X., Li, E., Klier, G., Huang, Q., Wu, Y., Lei, H., Kumar, N. M., Horwitz, J., Gilula, N. B.
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<strong>Disruption of alpha-3 connexin gene leads to proteolysis and cataractogenesis in mice.</strong>
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Cell 91: 833-843, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9413992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9413992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9413992" 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/s0092-8674(00)80471-7" target="_blank">Full Text</a>]
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<a id="Hansen2007" class="mim-anchor"></a>
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Hansen, L., Yao, W., Eiberg, H., Kjaer, K. W., Baggersen, K., Hejtmancik, J. F., Rosenberg, T.
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<strong>Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.</strong>
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Invest. Ophthal. Vis. Sci. 48: 3937-3944, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17724170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17724170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17724170" 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/10.1167/iovs.07-0013" target="_blank">Full Text</a>]
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<a id="He2011" class="mim-anchor"></a>
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He, W., Li, X., Chen, J., Xu, L., Zhang, F., Dai, Q., Cui, H., Wang, D.-M., Yu, J., Hu, S., Lu, S.
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<strong>Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.</strong>
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Ophthalmic Genet. 32: 48-53, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21174522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21174522</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21174522" 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/10.3109/13816810.2010.535886" target="_blank">Full Text</a>]
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Kerscher, S., Church, R. L., Boyd, Y., Lyon, M. F.
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<strong>Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin-beta-A3/A1), Crybb2 (crystallin-beta-B2), Gja8 (MP70), and Lim2 (MP19).</strong>
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Genomics 29: 445-450, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8666393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8666393</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8666393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1995.9983" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Nettleship1909" class="mim-anchor"></a>
|
|
<div class="">
|
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<p class="mim-text-font">
|
|
Nettleship, E.
|
|
<strong>Seven new pedigrees of hereditary cataract.</strong>
|
|
Trans. Ophthal. Soc. U.K. 29: 188-211, 1909.
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Nettleship1906" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Nettleship, E., Ogilvie, F. M.
|
|
<strong>A peculiar form of hereditary congenital cataract.</strong>
|
|
Trans. Ophthal. Soc. U.K. 26: 191-207, 1906.
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Nielsen2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nielsen, P. A., Baruch, A., Shestopalov, V. I., Giepmans, B. N. G., Dunia, I., Benedetti, E. L., Kumar, N. M.
|
|
<strong>Lens connexins alpha-3-Cx46 and alpha-8-Cx50 interact with zonula occludens protein-1 (ZO-1).</strong>
|
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Molec. Biol. Cell 14: 2470-2481, 2003.
|
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12808044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12808044</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12808044[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=12808044" 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/10.1091/mbc.e02-10-0637" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Polyakov2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Polyakov, A. V., Shagina I. A., Khlebnikova, O. V., Evgrafov, O. V.
|
|
<strong>Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. (Letter)</strong>
|
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Clin. Genet. 60: 476-478, 2001.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11846744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11846744</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11846744" 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/10.1034/j.1399-0004.2001.600614.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Renwick1963" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Renwick, J. H., Lawler, S. D.
|
|
<strong>Probable linkage between a congenital cataract and the Duffy blood group locus.</strong>
|
|
Ann. Hum. Genet. 27: 67-84, 1963.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14059288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14059288</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14059288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1963.tb00782.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Runge1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Runge, P. E., Hawes, N. L., Heckenlively, J. R., Langley, S. H., Roderick, T. H.
|
|
<strong>Autosomal dominant mouse cataract (Lop-10).</strong>
|
|
Invest. Ophthal. Vis. Sci. 33: 3202-3208, 1992.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1399425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1399425</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1399425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Shiels1997" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S.
|
|
<strong>A missense mutation in the GJA8 gene underlies autosomal dominant cataract on human chromosome 1q. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 61 (suppl.): A21 only, 1997.
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Shiels1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S.
|
|
<strong>A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q.</strong>
|
|
Am. J. Hum. Genet. 62: 526-532, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9497259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/301762" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="White2002" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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White, T. W.
|
|
<strong>Unique and redundant connexin contributions to lens development.</strong>
|
|
Science 295: 319-320, 2002.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11786642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11786642</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11786642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1067582" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="White1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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White, T. W., Goodenough, D. A., Paul, D. L.
|
|
<strong>Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.</strong>
|
|
J. Cell Biol. 143: 815-825, 1998.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9813099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9813099</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9813099[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=9813099" 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/10.1083/jcb.143.3.815" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Willoughby2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Willoughby, C. E., Arab, S., Gandhi, R., Zeinali, S., Arab, S., Luk, D., Billingsley, G., Munier, F. L., Heon, E.
|
|
<strong>A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.</strong>
|
|
J. Med. Genet. 40: e124, 2003. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14627691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14627691</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14627691" 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.40.11.e124" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 11/26/2013
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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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Marla J. F. O'Neill - updated : 10/21/2013<br>Marla J. F. O'Neill - updated : 4/26/2013<br>Marla J. F. O'Neill - updated : 11/12/2008<br>Marla J. F. O'Neill - updated : 11/16/2007<br>George E. Tiller - updated : 10/3/2002<br>Ada Hamosh - updated : 1/17/2002<br>Victor A. McKusick - updated : 8/31/1999<br>Victor A. McKusick - updated : 3/1/1999<br>Victor A. McKusick - updated : 8/26/1998<br>Victor A. McKusick - updated : 3/10/1998<br>Victor A. McKusick - updated : 10/23/1997<br>Richard Anderson - updated : 11/15/1995
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 10/25/1995
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 12/11/2013
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mcolton : 11/26/2013<br>carol : 10/21/2013<br>carol : 4/26/2013<br>carol : 8/27/2012<br>terry : 7/5/2012<br>carol : 8/16/2011<br>terry : 11/3/2010<br>carol : 10/14/2009<br>wwang : 11/13/2008<br>terry : 11/12/2008<br>carol : 11/16/2007<br>terry : 11/16/2007<br>carol : 11/16/2007<br>cwells : 10/8/2002<br>cwells : 10/3/2002<br>alopez : 1/22/2002<br>terry : 1/17/2002<br>carol : 9/9/1999<br>terry : 8/31/1999<br>psherman : 8/31/1999<br>terry : 8/19/1999<br>carol : 3/22/1999<br>terry : 3/1/1999<br>terry : 8/28/1998<br>carol : 8/26/1998<br>terry : 8/26/1998<br>dholmes : 3/30/1998<br>alopez : 3/10/1998<br>terry : 3/9/1998<br>terry : 3/9/1998<br>terry : 10/29/1997<br>alopez : 10/28/1997<br>alopez : 10/27/1997<br>terry : 10/23/1997<br>mark : 3/28/1996<br>terry : 3/27/1996<br>mark : 3/25/1996<br>mark : 1/12/1996<br>mark : 10/25/1995
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 600897
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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|
GAP JUNCTION PROTEIN, ALPHA-8; GJA8
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
GAP JUNCTION PROTEIN, 50-KD<br />
|
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CONNEXIN 50; CX50<br />
|
|
LENS INTRINSIC MEMBRANE PROTEIN MP70; MP70
|
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</span>
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GJA8</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 1q21.2
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 1:147,902,795-147,914,486 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
|
|
Phenotype
|
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</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
1q21.2
|
|
</span>
|
|
</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Cataract 1, multiple types
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
116200
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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|
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|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
<span class="mim-text-font">
|
|
<p>Gap junctions are made up of 2 interacting hemichannels that form communicating channels between neighboring cells. Each hemichannel contains 6 connexin subunits. GJA8 is a connexin of the ocular lens, where gap junctions maintain ionic and water balance and the transparency and optical properties of the lens (summary by Nielsen et al., 2003). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In the mammalian lens fiber cell membrane, 4 proteins (or their metabolic products) make up the vast majority of the total transmembrane proteins in the lens: MP19 (154045), MP26 (154050), MP46, and MP70. Church et al. (1995) isolated and characterized a human genomic clone containing the complete coding region of lens intrinsic membrane protein MP70, or connexin-50 gap junction protein. The 1,299-bp coding region for this gene encodes a protein of 48,171 Da containing 4 transmembrane domains. The human coding region demonstrates 86% identity with the mouse Cx50 at the nucleotide level and 89% identity at the protein level. Northern blot analysis suggests that human MP70 is probably expressed only in the lens. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using Chinese hamster-human somatic cell hybrid panels, Church et al. (1995) demonstrated that the human MP70 gene segregates with complete concordancy with human chromosome 1. They suggested that the MP70 gene may be a candidate gene for a heritable cataract, since zonular pulverulent cataract (CZP1; 116200) had previously been assigned to the long arm of this chromosome. </p><p>Using a panel of somatic cell hybrids and DNAs from the European Collaborative Interspecific Backcross, Kerscher et al. (1995) mapped the Gja8 locus to mouse chromosome 3, 11.9 +/- 5.0 cM distal to D3Mit22. This is in a region that shows conserved synteny with proximal 1q in the human. </p><p>By fluorescence in situ hybridization, Geyer et al. (1997) mapped the GJA8 gene to 1q21.1. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Fiber cells of the lens are interconnected by an extensive network of gap junctions containing alpha-3 (Cx46; 121015) and alpha-8 connexins. To determine the contribution of these connexins to lens function, Gong et al. (1998) used impedance techniques to study cell-to-cell coupling in lenses from homozygous Cx46 knockout, heterozygous Cx46 knockout, and wildtype mice. Western blots and immunofluorescence data indicated that Cx50 remained at similar levels in the 3 classes of lenses, whereas Cx46 was approximately 50% of the normal level in the heterozygous lenses and absent from the homozygous knockout lenses. Moreover, the data from homozygous normal lenses suggested that a cleavage of connexins occurs abruptly between the peripheral shell of differentiating fibers and the inner core of mature fibers. The appearance of the cleaved connexins was correlated to a change in the coupling conductance. In homozygous knockout lenses, the coupling conductance of mature fibers was zero, and these fibers were depolarized by about 30 mV from normal. The differentiating fibers remained coupled, but the conductance was reduced to 30 to 35% of normal. However, the gap junctions in the differentiating fibers of homozygous Cx46 knockout lenses remained sensitive to pH. Gong et al. (1998) concluded that Cx46 is necessary for the coupling of central fibers to peripheral cells, and that this coupling is essential for fiber cell homeostasis because uncoupled mature fibers depolarize and subsequently become opaque, forming a nuclear cataract. </p><p>Using coimmunoprecipitation analysis, Nielsen et al. (2003) found that Cx46 and Cx50 interacted with the tight junction protein Zo1 (TJP1; 601009) in mouse lens fiber cells. Mutation analysis revealed that the second PDZ domain of Zo1 interacted with C-terminal isoleucines of Cx46 and Cx50. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In 2 distantly related branches of an 8-generation English kindred known as 'Ev.' with zonular pulverulent cataract (116200) that had been shown to segregate with the Duffy blood group locus on 1q (Renwick and Lawler, 1963), Shiels et al. (1997, 1998) demonstrated linkage to a 20.6-cM interval between markers D1S2746 and D1S2771. Sequencing of the entire protein coding region of the GJA8 gene revealed a missense mutation (P88S; 600897.0001) that was not found in 50 unrelated control chromosomes. </p><p>Berry et al. (1999) studied 10 affected and 5 unaffected members of a family of Pakistani origin segregating autosomal dominant congenital nonprogressive zonular nuclear pulverulent cataract and found linkage to the CZP1 locus; analysis of the GJA8 gene revealed heterozygosity for a missense mutation (E48K; 600897.0002) in affected individuals that was not found in 100 ethnically matched control chromosomes. </p><p>In a 3-generation Russian family with zonular pulverulent cataract, Polyakov et al. (2001) identified a missense mutation in the GJA8 gene (I247M; 600897.0003). </p><p>In a 4-generation Iranian family segregating autosomal dominant progressive congenital nuclear cataract (116200), Willoughby et al. (2003) identified heterozygosity for a missense mutation in the GJA8 gene (R23T; 600897.0004). Affected family members had bilateral congenital cataracts that progressed and required surgery in the second and third decades due to dense fetal/embryonal nuclear cataract. No other systemic or ocular defects were present, including microcornea or microphthalmia. </p><p>Devi and Vijayalakshmi (2006) analyzed the GJA8 gene in 60 unrelated Indian patients with congenital or early childhood cataract, and identified 2 different missense mutations (600897.0005 and 600897.0006, respectively) in 2 probands from families with cataract and microcornea (116200). </p><p>In a Danish family segregating autosomal dominant stellate nuclear cataract and microcornea, Hansen et al. (2007) identified heterozygosity for a missense mutation in the GJA8 gene (600897.0008). </p><p>Arora et al. (2008) sequenced the GJA8 gene in 150 families with inherited cataract and identified heterozygosity for a missense mutation (600897.0007) in a 2-generation Caucasian family segregating autosomal dominant congenital nuclear pulverulent cataract (116200). He et al. (2011) identified the same mutation in affected members of a 6-generation Chinese family segregating nuclear cataract as well as in 1 unaffected member of the family, suggesting incomplete penetrance. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>White et al. (1998) generated mice with a targeted deletion of the Cx50 gene. Cx50-null mice exhibited microphthalmia and nuclear cataracts. At postnatal day 14, the eyes of Cx50 knockout mice weighed 32% less than those of controls, whereas lens mass was reduced by 46%. Cx50-knockout lenses also developed zonular pulverulent cataracts, and lens abnormalities were detected by postnatal day 7. Deletion of Cx50 did not alter the amount or distribution of Cx46 or Cx43 (121014), a component of lens epithelial junctions. In addition, intercellular passage of tracers revealed the persistence of communication between all cell types in the Cx50-knockout lens. </p><p>White (2002) targeted replacement of Cx50 with Cx46 by genetic knockin. This replacement corrected defects in cellular differentiation and prevented cataracts, but did not restore normal growth. White (2002) concluded that intrinsic properties of Cx50 are required for cellular growth, whereas nonspecific restoration of communication by Cx46 maintains differentiation. </p><p>Chang et al. (2002) mapped an autosomal semi-dominant cataract (Lop10) mutation (Runge et al., 1992) to mouse chromosome 3 and identified a gly22-to-arg (G22R) mutation in Gja8. The alpha-8 G22R isoform is a loss-of-function mutant for alpha-8, as well as a dominant mutation for reducing the phosphorylated forms of alpha-3 connexin in vivo. Double mutant offspring between Lop10 and the Gja3-tm1 (alpha-3 -/-) mice (Gong et al., 1997) showed relatively normal lens cortical fibers compared to the Lop10 mice. The authors concluded that a functional impairment of endogenous alpha-3 connexin is therefore partly responsible for cellular phenotypes in the Lop10 mice. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>8 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CATARACT 1, ZONULAR PULVERULENT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJA8, PRO88SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80358200,
|
|
|
|
|
|
|
|
ClinVar: RCV000009259
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an English kindred ('Ev.') with zonular pulverulent cataract (CTRCT1; 116200) linked to the Duffy blood group locus on chromosome 1q, Shiels et al. (1997, 1998) demonstrated a C-to-T transition in the protein-coding region of the GJA8 gene. The mutation introduced a novel MnlI restriction enzyme site. Restriction analysis confirmed that the change was present only in affected members of the pedigree; it was not detected in 50 unrelated normal chromosomes. The mutation in this family was located at nucleotide 262 and resulted in a nonconservative substitution of serine for proline at codon 88. </p><p>Shiels et al. (1998) traced this historic family using the registers at Moorfields Eye Hospital and Great Ormond Street Hospital, both in London. Referred to as the Ev. cataract family, it had first been described, in 4 generations, by Nettleship (1909) and then, in 6 generations, by Renwick and Lawler (1963), who showed linkage to Duffy blood group. Although all of the affected family members traced in the study of Shiels et al. (1998) had undergone lens surgery, hospital records confirmed that the cataract usually either was present at birth or developed in infancy and that there was no family history of other ocular or systemic abnormalities. The cataract must be distinguished from the Coppock cataract, which was described in a family of that name by Nettleship and Ogilvie (1906) and has been shown to be due to mutation in a crystallin gene (see 604307). The Coppock cataract is confined to the tiny embryonic lens, whereas the 'Ev.' cataract involves a larger fetal lens, which is more compatible in size to the nucleus of the adult lens. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CATARACT 1, ZONULAR PULVERULENT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJA8, GLU48LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80358201,
|
|
|
|
|
|
|
|
ClinVar: RCV000009260
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 10 affected members of a 3-generation Pakistani family with zonular nuclear pulverulent cataract linked to chromosome 1q (CTRCT1; 116200), Berry et al. (1999) identified a 142G-A transition in the GJA8 gene, resulting in a glu48-to-lys (E48K) substitution. The mutation was not found in 100 ethnically matched control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CATARACT 1, ZONULAR PULVERULENT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJA8, ILE247MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80358202,
|
|
|
|
|
|
gnomAD: rs80358202,
|
|
|
|
|
|
ClinVar: RCV000009261, RCV001253880, RCV004752694
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a mother and son from a 3-generation Russian family with zonular pulverulent cataract (CTRCT1; 116200), Polyakov et al. (2001) identified heterozygosity for a 741T-G transversion, resulting in an ile247-to-met (I247M) substitution in the last intracellular domain. The mutation was not found in unaffected members of the family or in 25 unrelated controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CATARACT 1, NUCLEAR PROGRESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJA8, ARG23THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80358203,
|
|
|
|
|
|
|
|
ClinVar: RCV000009262
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a 4-generation Iranian family segregating autosomal dominant progressive congenital nuclear cataract (CTRCT1; 116200), Willoughby et al. (2003) identified heterozygosity for a 68G-C transversion in the GJA8 gene, resulting in an arg23-to-thr (R23T) substitution at a highly conserved residue within the cytoplasmic N-terminal region at the membrane-cytoplasm boundary of the first transmembrane (M1) domain. The mutation was not found in unaffected family members or in 100 controls of mixed ethnicity or in 52 ethnically matched controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CATARACT 1 WITH MICROCORNEA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJA8, VAL44GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80358204,
|
|
|
|
|
|
|
|
ClinVar: RCV000009263
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Indian father and daughter with congenital cataract and microcornea (CTRCT1; 116200), Devi and Vijayalakshmi (2006) identified heterozygosity for a 131T-A transversion in the GJA8 gene, resulting in a val44-to-glu (V44E) substitution in the first transmembrane domain. The daughter had surgery at 3 months of age for total lens opacification; her father, who had undergone cataract surgery at age 3 years, was noted to have increased axial lengths suggestive of mild myopia. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CATARACT 1, POSTERIOR SUBCAPSULAR, WITH MICROCORNEA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJA8, ARG198GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80358205,
|
|
|
|
|
|
|
|
ClinVar: RCV000009264, RCV004724731
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 members of an Indian family with congenital cataract and microcornea (CTRCT1; 116200), Devi and Vijayalakshmi (2006) identified heterozygosity for a 593G-A transition in the GJA8 gene, resulting in an arg198-to-gln (R198Q) substitution in the second extracellular loop. The proband was a 7-year-old boy with posterior subcapsular cataract for which he underwent surgery at 4 years of age; he also had increased axial length suggestive of mild myopia. His 32-year-old mother, who was diagnosed with high myopia, had undergone cataract extraction at 10 years of age; and his maternal grandfather had cataract extraction at 22 years of age. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CATARACT 1, MULTIPLE TYPES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GJA8, ASP47ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121434643,
|
|
|
|
|
|
|
|
ClinVar: RCV000009265
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
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<p>In 4 affected members of a 2-generation family segregating autosomal dominant congenital nuclear pulverulent cataract (CTRCT1; 116200), Arora et al. (2008) identified heterozygosity for a 139G-A transition in the coding region of the GJA8 gene, resulting in an asp470-to-asn (D47N) substitution at a conserved residue. The mutation segregated with disease in the family and was not found in 156 ethnically matched controls. Functional studies in paired oocytes injected with D47N-mutant Cx50 showed no detectable intercellular conductance; coexpression of D47N-mutant Cx50 did not inhibit gap junctional conductance of wildtype Cx50. In transiently transfected HeLa cells, wildtype Cx50 localized to appositional membranes and within the perinuclear region, whereas D47N-mutant Cx50 showed no immunostaining at appositional membranes and immunoreactivity was confined to the cytoplasm. </p><p>In a 6-generation Chinese family segregating nuclear cataract, He et al. (2011) identified the D47N mutation in heterozygous state in all affected members and in 1 unaffected member, suggesting incomplete penetrance. The mutation led to loss of function of the protein. </p>
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<span class="mim-font">
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<strong>.0008 CATARACT 1, STELLATE NUCLEAR, WITH MICROCORNEA</strong>
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GJA8, PRO189LEU
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<br />
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SNP: rs397515627,
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ClinVar: RCV000059334
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<p>In a Danish mother and her 3 children with stellate nuclear cataract and microcornea (CTRCT1; 116200), Hansen et al. (2007) identified heterozygosity for a c.565C-T transition in exon 2 of the GJA8 gene, resulting in a pro189-to-leu (P189L) substitution at a highly conserved residue in the second extracellular region. The mutation was not found in 170 ethnically matched volunteers. Examination of the 4 affected family members showed star-shaped nuclear opacities with a whitish central core; corneas were 10 mm in diameter. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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Arora, A., Minogue, P. J., Liu, X., Addison, P. K., Russel-Eggitt, I., Webster, A. R., Hunt, D. M., Ebihara, L., Beyer, E. C., Berthoud, V. M., Moore, A. T.
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<strong>A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.</strong>
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J. Med. Genet. 45: 155-160, 2008.
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[PubMed: 18006672]
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[Full Text: https://doi.org/10.1136/jmg.2007.051029]
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</p>
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</li>
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Berry, V., Mackay, D., Khaliq, S., Francis, P. J., Hameed, A., Anwar, K., Mehdi, S. Q., Newbold, R. J., Ionides, A., Shiels, A., Moore, T., Bhattacharya, S. S.
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<strong>Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin.</strong>
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Hum. Genet. 105: 168-170, 1999.
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[PubMed: 10480374]
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[Full Text: https://doi.org/10.1007/s004399900094]
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Chang, B., Wang, X., Hawes, N. L., Ojakian, R., Davisson, M. T., Lo, W.-K., Gong, X.
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<strong>A Gja8 (Cx50) point mutation causes an alteration of alpha-3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice.</strong>
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Hum. Molec. Genet. 11: 507-513, 2002.
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</li>
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<li>
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<p class="mim-text-font">
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Church, R. L., Wang, J.-H., Steele, E.
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<strong>The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping.</strong>
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Curr. Eye Res. 14: 215-221, 1995. Note: Erratum: Curr. Eye Res. 14: 979-981, 1995.
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[PubMed: 7796604]
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[Full Text: https://doi.org/10.3109/02713689509033517]
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<p class="mim-text-font">
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Devi, R. R., Vijayalakshmi, P.
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<strong>Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.</strong>
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Molec. Vis. 12: 190-195, 2006.
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[PubMed: 16604058]
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Geyer, D. D., Church, R. L., Steele, E. C., Jr., Heinzmann, C., Kojis, T. L., Klisak, I., Sparkes, R. S., Bateman, J. B.
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<strong>Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1.</strong>
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Molec. Vision 3: 13, 1997. Note: Electronic Article.
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[PubMed: 9479004]
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<p class="mim-text-font">
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Gong, X., Baldo, G. J., Kumar, N. M., Gilula, N. B., Mathias, R. T.
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<strong>Gap junctional coupling in lenses lacking alpha-3 connexin.</strong>
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Proc. Nat. Acad. Sci. 95: 15303-15308, 1998.
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[PubMed: 9860964]
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[Full Text: https://doi.org/10.1073/pnas.95.26.15303]
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Gong, X., Li, E., Klier, G., Huang, Q., Wu, Y., Lei, H., Kumar, N. M., Horwitz, J., Gilula, N. B.
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<strong>Disruption of alpha-3 connexin gene leads to proteolysis and cataractogenesis in mice.</strong>
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Cell 91: 833-843, 1997.
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[PubMed: 9413992]
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[Full Text: https://doi.org/10.1016/s0092-8674(00)80471-7]
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</p>
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Hansen, L., Yao, W., Eiberg, H., Kjaer, K. W., Baggersen, K., Hejtmancik, J. F., Rosenberg, T.
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<strong>Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.</strong>
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Invest. Ophthal. Vis. Sci. 48: 3937-3944, 2007.
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[PubMed: 17724170]
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[Full Text: https://doi.org/10.1167/iovs.07-0013]
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He, W., Li, X., Chen, J., Xu, L., Zhang, F., Dai, Q., Cui, H., Wang, D.-M., Yu, J., Hu, S., Lu, S.
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<strong>Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.</strong>
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Ophthalmic Genet. 32: 48-53, 2011.
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[PubMed: 21174522]
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[Full Text: https://doi.org/10.3109/13816810.2010.535886]
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<p class="mim-text-font">
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Kerscher, S., Church, R. L., Boyd, Y., Lyon, M. F.
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<strong>Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin-beta-A3/A1), Crybb2 (crystallin-beta-B2), Gja8 (MP70), and Lim2 (MP19).</strong>
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Genomics 29: 445-450, 1995.
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[PubMed: 8666393]
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[Full Text: https://doi.org/10.1006/geno.1995.9983]
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<p class="mim-text-font">
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Nettleship, E.
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<strong>Seven new pedigrees of hereditary cataract.</strong>
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Trans. Ophthal. Soc. U.K. 29: 188-211, 1909.
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<li>
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<p class="mim-text-font">
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Nettleship, E., Ogilvie, F. M.
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<strong>A peculiar form of hereditary congenital cataract.</strong>
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Trans. Ophthal. Soc. U.K. 26: 191-207, 1906.
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<li>
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<p class="mim-text-font">
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Nielsen, P. A., Baruch, A., Shestopalov, V. I., Giepmans, B. N. G., Dunia, I., Benedetti, E. L., Kumar, N. M.
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<strong>Lens connexins alpha-3-Cx46 and alpha-8-Cx50 interact with zonula occludens protein-1 (ZO-1).</strong>
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Molec. Biol. Cell 14: 2470-2481, 2003.
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[PubMed: 12808044]
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[Full Text: https://doi.org/10.1091/mbc.e02-10-0637]
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</p>
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<li>
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<p class="mim-text-font">
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Polyakov, A. V., Shagina I. A., Khlebnikova, O. V., Evgrafov, O. V.
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<strong>Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. (Letter)</strong>
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Clin. Genet. 60: 476-478, 2001.
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[PubMed: 11846744]
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[Full Text: https://doi.org/10.1034/j.1399-0004.2001.600614.x]
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<li>
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<p class="mim-text-font">
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Renwick, J. H., Lawler, S. D.
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<strong>Probable linkage between a congenital cataract and the Duffy blood group locus.</strong>
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Ann. Hum. Genet. 27: 67-84, 1963.
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[PubMed: 14059288]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1963.tb00782.x]
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<p class="mim-text-font">
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Runge, P. E., Hawes, N. L., Heckenlively, J. R., Langley, S. H., Roderick, T. H.
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<strong>Autosomal dominant mouse cataract (Lop-10).</strong>
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Invest. Ophthal. Vis. Sci. 33: 3202-3208, 1992.
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[PubMed: 1399425]
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<li>
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<p class="mim-text-font">
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Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S.
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<strong>A missense mutation in the GJA8 gene underlies autosomal dominant cataract on human chromosome 1q. (Abstract)</strong>
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Am. J. Hum. Genet. 61 (suppl.): A21 only, 1997.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Shiels, A., Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S.
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<strong>A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q.</strong>
|
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Am. J. Hum. Genet. 62: 526-532, 1998.
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[PubMed: 9497259]
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[Full Text: https://doi.org/10.1086/301762]
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</li>
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<li>
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<p class="mim-text-font">
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White, T. W.
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<strong>Unique and redundant connexin contributions to lens development.</strong>
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Science 295: 319-320, 2002.
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[PubMed: 11786642]
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[Full Text: https://doi.org/10.1126/science.1067582]
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<p class="mim-text-font">
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White, T. W., Goodenough, D. A., Paul, D. L.
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<strong>Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.</strong>
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J. Cell Biol. 143: 815-825, 1998.
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[PubMed: 9813099]
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[Full Text: https://doi.org/10.1083/jcb.143.3.815]
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Willoughby, C. E., Arab, S., Gandhi, R., Zeinali, S., Arab, S., Luk, D., Billingsley, G., Munier, F. L., Heon, E.
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<strong>A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.</strong>
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J. Med. Genet. 40: e124, 2003. Note: Electronic Article.
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[PubMed: 14627691]
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[Full Text: https://doi.org/10.1136/jmg.40.11.e124]
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<span class="text-nowrap mim-text-font">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 11/26/2013<br>Marla J. F. O'Neill - updated : 10/21/2013<br>Marla J. F. O'Neill - updated : 4/26/2013<br>Marla J. F. O'Neill - updated : 11/12/2008<br>Marla J. F. O'Neill - updated : 11/16/2007<br>George E. Tiller - updated : 10/3/2002<br>Ada Hamosh - updated : 1/17/2002<br>Victor A. McKusick - updated : 8/31/1999<br>Victor A. McKusick - updated : 3/1/1999<br>Victor A. McKusick - updated : 8/26/1998<br>Victor A. McKusick - updated : 3/10/1998<br>Victor A. McKusick - updated : 10/23/1997<br>Richard Anderson - updated : 11/15/1995
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 10/25/1995
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mgross : 12/11/2013<br>mcolton : 11/26/2013<br>carol : 10/21/2013<br>carol : 4/26/2013<br>carol : 8/27/2012<br>terry : 7/5/2012<br>carol : 8/16/2011<br>terry : 11/3/2010<br>carol : 10/14/2009<br>wwang : 11/13/2008<br>terry : 11/12/2008<br>carol : 11/16/2007<br>terry : 11/16/2007<br>carol : 11/16/2007<br>cwells : 10/8/2002<br>cwells : 10/3/2002<br>alopez : 1/22/2002<br>terry : 1/17/2002<br>carol : 9/9/1999<br>terry : 8/31/1999<br>psherman : 8/31/1999<br>terry : 8/19/1999<br>carol : 3/22/1999<br>terry : 3/1/1999<br>terry : 8/28/1998<br>carol : 8/26/1998<br>terry : 8/26/1998<br>dholmes : 3/30/1998<br>alopez : 3/10/1998<br>terry : 3/9/1998<br>terry : 3/9/1998<br>terry : 10/29/1997<br>alopez : 10/28/1997<br>alopez : 10/27/1997<br>terry : 10/23/1997<br>mark : 3/28/1996<br>terry : 3/27/1996<br>mark : 3/25/1996<br>mark : 1/12/1996<br>mark : 10/25/1995
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