3388 lines
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- *606580 - OUTER MITOCHONDRIAL MEMBRANE LIPID METABOLISM REGULATOR OPA3; OPA3
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- OMIM
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<p>
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<span class="h4">*606580</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#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/606580">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000125741;t=ENST00000263275" 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=80207" 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=606580" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000125741;t=ENST00000263275" 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_001017989,NM_025136,XM_006723403" 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_025136" 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=606580" 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=05956&isoform_id=05956_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/OPA3" 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/10438477,13376717,13477195,20139177,21758920,39849948,66947432,108250518,119577771,156151427,194383066,578834946,2462567883" 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/Q9H6K4" 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=80207" 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=ENSG00000125741;t=ENST00000263275" 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=OPA3" 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=OPA3" 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+80207" 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/OPA3" 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:80207" 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/80207" 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=chr19&hgg_gene=ENST00000263275.5&hgg_start=45527427&hgg_end=45584802&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:8142" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/opa3" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606580[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=606580[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000125741" 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=OPA3" 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=OPA3" 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=OPA3" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=OPA3&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/PA31929" 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:8142" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0039126.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2686271" 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/OPA3#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:2686271" 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/80207/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=80207" 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://wormbase.org/db/gene/gene?name=WBGene00019274;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050210-1" 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=OPA3&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 297232009, 719517009<br />
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">ICD+</a>
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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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606580
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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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OUTER MITOCHONDRIAL MEMBRANE LIPID METABOLISM REGULATOR OPA3; OPA3
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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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OPA3 GENE
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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=OPA3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">OPA3</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/19/826?start=-3&limit=10&highlight=826">19q13.32</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:45527427-45584802&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'})">19:45,527,427-45,584,802</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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<span class="hidden-sm hidden-xs pull-right">
|
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<a href="/clinicalSynopsis/table?mimNumber=258501,165300" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
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</span>
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="2">
|
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<span class="mim-font">
|
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<a href="/geneMap/19/826?start=-3&limit=10&highlight=826">
|
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19q13.32
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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3-methylglutaconic aciduria, type III
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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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|
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<a href="/entry/258501"> 258501 </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 recessive">AR</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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<tr>
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<td>
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<span class="mim-font">
|
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Optic atrophy 3 with cataract
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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/165300"> 165300 </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>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/606580" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>OPA3 is an integral protein of the mitochondrial outer membrane that induces mitochondrial fragmentation (<a href="#9" class="mim-tip-reference" title="Ryu, S. W., Jeong, H. J., Choi, M., Karbowski, M., Choi, C. <strong>Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation.</strong> Cell. Molec. Life Sci. 67: 2839-2850, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20372962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20372962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20372962[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/10.1007/s00018-010-0365-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20372962">Ryu et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20372962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequencing within the critical mapping interval for 3-methylglutaconic aciduria type III (MGCA3; <a href="/entry/258501">258501</a>) on chromosome 19, <a href="#1" class="mim-tip-reference" title="Anikster, Y., Kleta, R., Shaag, A., Gahl, W. A., Elpeleg, O. <strong>Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.</strong> Am. J. Hum. Genet. 69: 1218-1224, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11668429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11668429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11668429[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/324651" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11668429">Anikster et al. (2001)</a> identified a point mutation that segregated with the MGCA3 phenotype in the intronic sequence of a gene, designated OPA3, corresponding to cDNA clone FLJ22187. The OPA3 cDNA encodes a deduced 179-amino acid protein. Northern blot analysis demonstrated a primary transcript of approximately 5.0 kb that was ubiquitously expressed, most prominently in skeletal muscle and kidney. Compared to other parts of the brain, the cerebral cortex, the medulla, the cerebellum, and the frontal lobe had slightly increased expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11668429" 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 database analysis and PCR of cultured human fibroblasts, <a href="#6" class="mim-tip-reference" title="Huizing, M., Dorward, H., Ly, L., Klootwijk, E., Kleta, R., Skovby, F., Pei, W., Feldman, B., Gahl, W. A., Anikster, Y. <strong>OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.</strong> Molec. Genet. Metab. 100: 149-154, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20350831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20350831</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20350831[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2010.03.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20350831">Huizing et al. (2010)</a> cloned 2 splice variants of OPA3. The variants, OPA3A and OPA3B, differ in the splicing of the common exon 1 onto exon 2 or 3, respectively. The deduced OPA3A and OPA3B proteins contain 179 and 180 amino acids, respectively, and are identical for the first 47 N-terminal amino acids, including a putative mitochondrial localization signal. Their C-terminal sequences are also highly homologous and end in putative peroxisomal targeting signals. Real-time quantitative PCR detected tissue-specific expression of both variants in all tissues examined. OPA3A showed highest expression in skeletal muscle and heart, and OPA3B showed highest expression in testis. Fluorescence-tagged OPA3A and OPA3B localized to mitochondria. When mitochondrial localization was blocked, OPA3A, but not OPA3B, localized to peroxisomes. Database analysis revealed conservation of OPA3A from fungi to primates, whereas OPA3B was found only in mammals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20350831" 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 fractionation analysis, <a href="#9" class="mim-tip-reference" title="Ryu, S. W., Jeong, H. J., Choi, M., Karbowski, M., Choi, C. <strong>Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation.</strong> Cell. Molec. Life Sci. 67: 2839-2850, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20372962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20372962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20372962[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/10.1007/s00018-010-0365-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20372962">Ryu et al. (2010)</a> showed that OPA3 localized to the outer membrane of mitochondria in HeLa cells. OPA3 was anchored in the outer membrane with its N-terminal region exposed to the mitochondrial intermembrane space and its C-terminal region exposed to the cytosol. Deletion analysis revealed that the N terminus of OPA3 was required for mitochondrial targeting. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20372962" 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="#1" class="mim-tip-reference" title="Anikster, Y., Kleta, R., Shaag, A., Gahl, W. A., Elpeleg, O. <strong>Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.</strong> Am. J. Hum. Genet. 69: 1218-1224, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11668429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11668429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11668429[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/324651" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11668429">Anikster et al. (2001)</a> determined that the OPA3 gene contains 2 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11668429" 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="#6" class="mim-tip-reference" title="Huizing, M., Dorward, H., Ly, L., Klootwijk, E., Kleta, R., Skovby, F., Pei, W., Feldman, B., Gahl, W. A., Anikster, Y. <strong>OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.</strong> Molec. Genet. Metab. 100: 149-154, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20350831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20350831</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20350831[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2010.03.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20350831">Huizing et al. (2010)</a> determined that the OPA3 gene contains 3 exons and spans 57.3 kb. Intron 1 contains a LINE-1 (L2MC4) transposon. Exons 2 and 3 are highly similar and appear to have originated from a segmental duplication. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20350831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequence analysis, <a href="#1" class="mim-tip-reference" title="Anikster, Y., Kleta, R., Shaag, A., Gahl, W. A., Elpeleg, O. <strong>Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.</strong> Am. J. Hum. Genet. 69: 1218-1224, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11668429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11668429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11668429[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/324651" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11668429">Anikster et al. (2001)</a> mapped the OPA3 gene to chromosome 19q13.2-q13.3. <a href="#6" class="mim-tip-reference" title="Huizing, M., Dorward, H., Ly, L., Klootwijk, E., Kleta, R., Skovby, F., Pei, W., Feldman, B., Gahl, W. A., Anikster, Y. <strong>OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.</strong> Molec. Genet. Metab. 100: 149-154, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20350831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20350831</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20350831[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2010.03.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20350831">Huizing et al. (2010)</a> mapped the OPA3 gene to chromosome 19q13.32 by genomic sequence analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11668429+20350831" 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="#9" class="mim-tip-reference" title="Ryu, S. W., Jeong, H. J., Choi, M., Karbowski, M., Choi, C. <strong>Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation.</strong> Cell. Molec. Life Sci. 67: 2839-2850, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20372962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20372962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20372962[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/10.1007/s00018-010-0365-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20372962">Ryu et al. (2010)</a> found that OPA3 overexpression induced mitochondrial fragmentation in HeLa cells, whereas OPA3-knockdown cells had more elongated and tubular mitochondria compared with controls. The effects of OPA3 on mitochondrial morphology were independent of DRP1 (DNM1L; <a href="/entry/603850">603850</a>)- and FIS1 (<a href="/entry/609003">609003</a>)-mediated mitochondrial fission. Instead, overexpression of OPA3 increased sensitivity to apoptotic signals, whereas depletion of OPA3 protected against apoptotic cell death. Deletion analysis revealed that the hydrophobic region of OPA3 was required for mitochondrial fragmentation. OPA3 function appeared to be evolutionarily conserved, as expression of Drosophila OPA3 rescued mitochondrial morphology in OPA3-knockdown HeLa cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20372962" 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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In 10 Iraqi Jewish patients from 8 different families with 3-methylglutaconic aciduria type III (MGCA3; <a href="/entry/258501">258501</a>), <a href="#1" class="mim-tip-reference" title="Anikster, Y., Kleta, R., Shaag, A., Gahl, W. A., Elpeleg, O. <strong>Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.</strong> Am. J. Hum. Genet. 69: 1218-1224, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11668429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11668429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11668429[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/324651" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11668429">Anikster et al. (2001)</a> identified a homozygous splice site mutation in the OPA3 gene (<a href="#0001">606580.0001</a>). The mutation was also detected in 8 of 85 healthy ethnically matched controls, yielding a carrier frequency of 1 in 10 and indicating a founder effect. The authors suggested that milder mutations of OPA3 should be sought in patients with optic atrophy with later onset, even in the absence of additional neurologic abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11668429" 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 14 patients with MGCA3, all except one of Iraqi Jewish descent, <a href="#10" class="mim-tip-reference" title="Yahalom, G., Anikster, Y., Huna-Baron, R., Hoffmann, C., Blumkin, L., Lev, D., Tsabari, R., Nitsan, Z., Lerman, S. F., Ben-Zeev, B., Pode-Shakked, B., Sofer, S., Schweiger, A., Lerman-Sagie, T., Hassin-Baer, S. <strong>Costeff syndrome: clinical features and natural history.</strong> J. Neurol. 261: 2275-2282, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25201222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25201222</a>] [<a href="https://doi.org/10.1007/s00415-014-7481-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25201222">Yahalom et al. (2014)</a> identified homozygosity for the splice site mutation previously identified by <a href="#1" class="mim-tip-reference" title="Anikster, Y., Kleta, R., Shaag, A., Gahl, W. A., Elpeleg, O. <strong>Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.</strong> Am. J. Hum. Genet. 69: 1218-1224, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11668429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11668429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11668429[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/324651" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11668429">Anikster et al. (2001)</a> in the OPA3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11668429+25201222" 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 14-year-old boy, born of first-cousin Kurdish-Turkish parents, with MGCA3, <a href="#7" class="mim-tip-reference" title="Kleta, R., Skovby, F., Christensen, E., Rosenberg, T., Gahl, W. A., Anikster, Y. <strong>3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.</strong> Molec. Genet. Metab. 76: 201-206, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12126933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12126933</a>] [<a href="https://doi.org/10.1016/s1096-7192(02)00047-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12126933">Kleta et al. (2002)</a> identified homozygosity for a deletion in exon 2 of the OPA3 gene (<a href="#0004">606580.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12126933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 cousins (family DYAF09), born to consanguineous Pakistani parents, with MGCA3, <a href="#2" class="mim-tip-reference" title="Arif, B., Kumar, K. R., Seibler, P., Vulinovic, F., Fatima, A., Winkler, S., Nurnberg, G., Thiele, H., Nurnberg, P., Jamil, A. Z., Bruggemann, A., Abbas, G., Klein, C., Lohmann, K. <strong>A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.</strong> JAMA Neurol. 70: 783-787, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23700088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23700088</a>] [<a href="https://doi.org/10.1001/jamaneurol.2013.1174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23700088">Arif et al. (2013)</a> identified a homozygous missense mutation in exon 1 of the OPA3 gene (L11Q; 606580.0005). The mutation, which was identified by genomewide homozygosity mapping and exome sequencing, was confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23700088" 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 an 18-year-old patient with MGCA3, who was born to nonconsanguineous Indian parents, <a href="#5" class="mim-tip-reference" title="Ho, G., Walter, J. H., Christodoulou, J. <strong>Costeff optic atrophy syndrome: new clinical case and novel molecular findings.</strong> J. Inherit. Metab. Dis. 31 (Suppl. 2): S419-S423, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18985435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18985435</a>] [<a href="https://doi.org/10.1007/s10545-008-0981-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18985435">Ho et al. (2008)</a> identified presumed homozygosity for a nonsense mutation in exon 2 of the OPA3 gene (Q139X; <a href="#0006">606580.0006</a>). The father was a carrier for the mutation, but DNA from the mother was not available for testing; <a href="#5" class="mim-tip-reference" title="Ho, G., Walter, J. H., Christodoulou, J. <strong>Costeff optic atrophy syndrome: new clinical case and novel molecular findings.</strong> J. Inherit. Metab. Dis. 31 (Suppl. 2): S419-S423, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18985435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18985435</a>] [<a href="https://doi.org/10.1007/s10545-008-0981-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18985435">Ho et al. (2008)</a> could therefore not exclude the possibility of a deletion of exon 2 on the maternal allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18985435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Optic Atrophy 3 with Cataract</em></strong></p><p>
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In affected members of 2 families with autosomal dominant optic atrophy and cataract (OPA3; <a href="/entry/165300">165300</a>), <a href="#8" class="mim-tip-reference" title="Reynier, P., Amati-Bonneau, P., Verny, C., Olichon, A., Simard, G., Guichet, A., Bonnemains, C., Malecaze, F., Malinge, M. C., Pelletier, J. B., Calvas, P., Dollfus, H., Belenguer, P., Malthiery, Y., Lenaers, G., Bonneau, D. <strong>OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.</strong> J. Med. Genet. 41: e110, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15342707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15342707</a>] [<a href="https://doi.org/10.1136/jmg.2003.016576" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15342707">Reynier et al. (2004)</a> identified 2 different mutations in the OPA3 gene (G93S, <a href="#0002">606580.0002</a> and Q105E, <a href="#0003">606580.0003</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15342707" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606580[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p><a href="#1" class="mim-tip-reference" title="Anikster, Y., Kleta, R., Shaag, A., Gahl, W. A., Elpeleg, O. <strong>Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.</strong> Am. J. Hum. Genet. 69: 1218-1224, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11668429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11668429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11668429[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/324651" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11668429">Anikster et al. (2001)</a> identified an acceptor splice site mutation in the OPA3 gene, IVS1-1G-C, as the cause of 3-methylglutaconic aciduria type III (MGCA3; <a href="/entry/258501">258501</a>), or optic atrophy plus syndrome, in several Iraqi Jewish patients. The mutation abolished mRNA expression in the patients' fibroblasts. The mutation was also detected in 8 of 85 healthy ethnically matched controls, yielding a carrier frequency of 1 in 10 and indicating a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11668429" 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 14 patients with MGCA3, all except one of Iraqi Jewish descent, <a href="#10" class="mim-tip-reference" title="Yahalom, G., Anikster, Y., Huna-Baron, R., Hoffmann, C., Blumkin, L., Lev, D., Tsabari, R., Nitsan, Z., Lerman, S. F., Ben-Zeev, B., Pode-Shakked, B., Sofer, S., Schweiger, A., Lerman-Sagie, T., Hassin-Baer, S. <strong>Costeff syndrome: clinical features and natural history.</strong> J. Neurol. 261: 2275-2282, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25201222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25201222</a>] [<a href="https://doi.org/10.1007/s00415-014-7481-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25201222">Yahalom et al. (2014)</a> identified homozygosity for the IVS1-1G-C (c.143-1G-C) mutation in the OPA3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25201222" 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 5-year-old girl, born of consanguineous Syrian Jewish parents, with MGCA3, <a href="#3" class="mim-tip-reference" title="Carmi, N., Lev, D., Leshinsky-Silver, E., Anikster, Y., Blumkin, L., Kivity, S., Lerman-Sagie, T., Zerem, A. <strong>Atypical presentation of Costeff syndrome--severe psychomotor involvement and electrical status epilepticus during slow wave sleep.</strong> Europ. J. Paediat. Neurol. 19: 733-736, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26190011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26190011</a>] [<a href="https://doi.org/10.1016/j.ejpn.2015.06.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26190011">Carmi et al. (2015)</a> identified homozygosity for the c.143-1G-C mutation in the OPA3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26190011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a French family with autosomal dominant optic atrophy and cataract (OPA3; <a href="/entry/165300">165300</a>) first described by <a href="#4" class="mim-tip-reference" title="Garcin, R., Raverdy, P., Delthil, S., Man, H. X., Chimenes, H. <strong>Sur une affection heredo-familiale associant cataracte, atrophie optique, signes extra-pyramidaux et certains stigmates de la maladie de Friedreich. (Sa position nosologique par rapport au syndrome de Behr, au syndrome de Marinesco-Sjogren et a la maladie de Friedreich avec signes oculaires.).</strong> Rev. Neurol. 104: 373-379, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13703570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13703570</a>]" pmid="13703570">Garcin et al. (1961)</a>, <a href="#8" class="mim-tip-reference" title="Reynier, P., Amati-Bonneau, P., Verny, C., Olichon, A., Simard, G., Guichet, A., Bonnemains, C., Malecaze, F., Malinge, M. C., Pelletier, J. B., Calvas, P., Dollfus, H., Belenguer, P., Malthiery, Y., Lenaers, G., Bonneau, D. <strong>OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.</strong> J. Med. Genet. 41: e110, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15342707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15342707</a>] [<a href="https://doi.org/10.1136/jmg.2003.016576" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15342707">Reynier et al. (2004)</a> identified a heterozygous 277G-A transition in exon 2 of the OPA3 gene, resulting in a gly93-to-ser (G93S) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13703570+15342707" 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">rs80356525 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356525;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=rs80356525" 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=rs80356525" 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=RCV000004463 OR RCV000814602 OR RCV001092423" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004463, RCV000814602, RCV001092423" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004463...</a>
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<p>In affected members of a family with autosomal dominant optic atrophy and cataract (OPA3; <a href="/entry/165300">165300</a>), <a href="#8" class="mim-tip-reference" title="Reynier, P., Amati-Bonneau, P., Verny, C., Olichon, A., Simard, G., Guichet, A., Bonnemains, C., Malecaze, F., Malinge, M. C., Pelletier, J. B., Calvas, P., Dollfus, H., Belenguer, P., Malthiery, Y., Lenaers, G., Bonneau, D. <strong>OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.</strong> J. Med. Genet. 41: e110, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15342707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15342707</a>] [<a href="https://doi.org/10.1136/jmg.2003.016576" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15342707">Reynier et al. (2004)</a> identified a heterozygous 313C-G transversion in exon 2 of the OPA3 gene, resulting in a gln105-to-glu (Q105E) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15342707" 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">rs80356526 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356526;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=rs80356526" 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=rs80356526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 14-year-old boy, born of first-cousin Kurdish-Turkish parents, with 3-methylglutaconic aciduria type III (MGCA3; <a href="/entry/258501">258501</a>), <a href="#7" class="mim-tip-reference" title="Kleta, R., Skovby, F., Christensen, E., Rosenberg, T., Gahl, W. A., Anikster, Y. <strong>3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.</strong> Molec. Genet. Metab. 76: 201-206, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12126933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12126933</a>] [<a href="https://doi.org/10.1016/s1096-7192(02)00047-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12126933">Kleta et al. (2002)</a> identified a homozygous 18-bp deletion in exon 2 of the OPA3 gene, resulting in the deletion of 6 amino acids between codons 108 and 113. As a child, the boy had ataxic gait and 3-methylglutaconic aciduria. Decreased visual acuity with optic atrophy was diagnosed at age 9 years. At age 13, he was physically active with normal intelligence, but had mild ataxic restlessness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12126933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 3-@METHYLGLUTACONIC ACIDURIA, TYPE III</strong>
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OPA3, LEU11GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1969907819 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1969907819;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=rs1969907819" 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=rs1969907819" 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=RCV001175256" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001175256" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001175256</a>
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<p>In 2 cousins (family DYAF09) with 3-methylglutaconic aciduria type III (MGCA3; <a href="/entry/258501">258501</a>), who were born to consanguineous Pakistani parents, <a href="#2" class="mim-tip-reference" title="Arif, B., Kumar, K. R., Seibler, P., Vulinovic, F., Fatima, A., Winkler, S., Nurnberg, G., Thiele, H., Nurnberg, P., Jamil, A. Z., Bruggemann, A., Abbas, G., Klein, C., Lohmann, K. <strong>A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.</strong> JAMA Neurol. 70: 783-787, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23700088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23700088</a>] [<a href="https://doi.org/10.1001/jamaneurol.2013.1174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23700088">Arif et al. (2013)</a> identified a homozygous c.32T-A transversion (c.32T-A, NM_015136) in exon 1 of the OPA3 gene, resulting in a leu11-to-gln (L11Q) substitution at an evolutionarily conserved residue. The mutation, which was identified by genomewide homozygosity mapping and exome sequencing, was verified by Sanger sequencing and segregated with the disease in the family. The variant was not present in the NHLBI Exome Variant Project database or in 342 Pakistani controls. The mutation affects both OPA3 transcripts (OPA3A and OPA3B) and is located within a potential mitochondrial leader sequence, possibly causing abnormalities in mitochondrial targeting. Both patients also had a homozygous mutation in the TSHZ3 gene (c.941C-G, A314G) that segregated with the disorder in the family. The authors considered the OPA3 mutation to be pathogenic because of the clinical features known to be associated with OPA3 mutations, but could not exclude a possible modifying role for the TSHZ3 mutation. Both patients had optic disc pallor and choreiform and myoclonic movements. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23700088" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 3-@METHYLGLUTACONIC ACIDURIA, TYPE III</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28937899 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28937899;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=rs28937899" 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=rs28937899" 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=RCV000020909" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020909" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020909</a>
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<p>In an 18-year-old patient with 3-methylglutaconic aciduria type III (MGCA3; <a href="/entry/258501">258501</a>), who was born to nonconsanguineous Indian parents, <a href="#5" class="mim-tip-reference" title="Ho, G., Walter, J. H., Christodoulou, J. <strong>Costeff optic atrophy syndrome: new clinical case and novel molecular findings.</strong> J. Inherit. Metab. Dis. 31 (Suppl. 2): S419-S423, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18985435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18985435</a>] [<a href="https://doi.org/10.1007/s10545-008-0981-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18985435">Ho et al. (2008)</a> identified a homozygous c.415C-T transition (c.415C-T, NM_025136.2) in exon 2 of the OPA3 gene, resulting in a gln139-to-ter (Q139X) substitution. The early termination codon was predicted to lead to nonsense mediated decay of the OPA3 transcript. The mutation, which was found by Sanger sequencing, was present in heterozygous state in the father, but DNA from the mother was not available for testing. <a href="#5" class="mim-tip-reference" title="Ho, G., Walter, J. H., Christodoulou, J. <strong>Costeff optic atrophy syndrome: new clinical case and novel molecular findings.</strong> J. Inherit. Metab. Dis. 31 (Suppl. 2): S419-S423, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18985435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18985435</a>] [<a href="https://doi.org/10.1007/s10545-008-0981-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18985435">Ho et al. (2008)</a> could not exclude the possibility that the patient had inherited deletion of exon 2 from her mother. The patient had elevated 3-methylglutaconic acid and 3-methylglutaric acid in the urine. She had bilateral optic atrophy and mild ataxia and spasticity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18985435" 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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Anikster, Y., Kleta, R., Shaag, A., Gahl, W. A., Elpeleg, O.
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<strong>Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.</strong>
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Am. J. Hum. Genet. 69: 1218-1224, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11668429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11668429</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11668429[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=11668429" 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/10.1086/324651" target="_blank">Full Text</a>]
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Arif, B., Kumar, K. R., Seibler, P., Vulinovic, F., Fatima, A., Winkler, S., Nurnberg, G., Thiele, H., Nurnberg, P., Jamil, A. Z., Bruggemann, A., Abbas, G., Klein, C., Lohmann, K.
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<strong>A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.</strong>
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JAMA Neurol. 70: 783-787, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23700088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23700088</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23700088" 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/10.1001/jamaneurol.2013.1174" target="_blank">Full Text</a>]
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Carmi, N., Lev, D., Leshinsky-Silver, E., Anikster, Y., Blumkin, L., Kivity, S., Lerman-Sagie, T., Zerem, A.
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<strong>Atypical presentation of Costeff syndrome--severe psychomotor involvement and electrical status epilepticus during slow wave sleep.</strong>
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Europ. J. Paediat. Neurol. 19: 733-736, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26190011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26190011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26190011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Garcin, R., Raverdy, P., Delthil, S., Man, H. X., Chimenes, H.
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<strong>Sur une affection heredo-familiale associant cataracte, atrophie optique, signes extra-pyramidaux et certains stigmates de la maladie de Friedreich. (Sa position nosologique par rapport au syndrome de Behr, au syndrome de Marinesco-Sjogren et a la maladie de Friedreich avec signes oculaires.).</strong>
|
|
Rev. Neurol. 104: 373-379, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13703570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13703570</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13703570" 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="5" class="mim-anchor"></a>
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<a id="Ho2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Ho, G., Walter, J. H., Christodoulou, J.
|
|
<strong>Costeff optic atrophy syndrome: new clinical case and novel molecular findings.</strong>
|
|
J. Inherit. Metab. Dis. 31 (Suppl. 2): S419-S423, 2008.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18985435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18985435</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18985435" 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/s10545-008-0981-z" 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="6" class="mim-anchor"></a>
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<a id="Huizing2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Huizing, M., Dorward, H., Ly, L., Klootwijk, E., Kleta, R., Skovby, F., Pei, W., Feldman, B., Gahl, W. A., Anikster, Y.
|
|
<strong>OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.</strong>
|
|
Molec. Genet. Metab. 100: 149-154, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20350831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20350831</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20350831[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=20350831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2010.03.005" 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="7" class="mim-anchor"></a>
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<a id="Kleta2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kleta, R., Skovby, F., Christensen, E., Rosenberg, T., Gahl, W. A., Anikster, Y.
|
|
<strong>3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.</strong>
|
|
Molec. Genet. Metab. 76: 201-206, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12126933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12126933</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12126933" 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/s1096-7192(02)00047-1" 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="8" class="mim-anchor"></a>
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<a id="Reynier2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Reynier, P., Amati-Bonneau, P., Verny, C., Olichon, A., Simard, G., Guichet, A., Bonnemains, C., Malecaze, F., Malinge, M. C., Pelletier, J. B., Calvas, P., Dollfus, H., Belenguer, P., Malthiery, Y., Lenaers, G., Bonneau, D.
|
|
<strong>OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.</strong>
|
|
J. Med. Genet. 41: e110, 2004. Note: Electronic Article.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15342707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15342707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15342707" 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.2003.016576" 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="9" class="mim-anchor"></a>
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<a id="Ryu2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Ryu, S. W., Jeong, H. J., Choi, M., Karbowski, M., Choi, C.
|
|
<strong>Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation.</strong>
|
|
Cell. Molec. Life Sci. 67: 2839-2850, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20372962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20372962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20372962[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=20372962" 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/s00018-010-0365-z" 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="10" class="mim-anchor"></a>
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<a id="Yahalom2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yahalom, G., Anikster, Y., Huna-Baron, R., Hoffmann, C., Blumkin, L., Lev, D., Tsabari, R., Nitsan, Z., Lerman, S. F., Ben-Zeev, B., Pode-Shakked, B., Sofer, S., Schweiger, A., Lerman-Sagie, T., Hassin-Baer, S.
|
|
<strong>Costeff syndrome: clinical features and natural history.</strong>
|
|
J. Neurol. 261: 2275-2282, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25201222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25201222</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25201222" 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/s00415-014-7481-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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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 03/23/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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|
Hilary J. Vernon - updated : 06/16/2020<br>Patricia A. Hartz - updated : 10/24/2012<br>Cassandra L. Kniffin - updated : 10/12/2007<br>Victor A. McKusick - updated : 10/12/2004
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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">
|
|
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 : 12/21/2001
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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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carol : 10/04/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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|
mgross : 03/23/2023<br>carol : 06/18/2020<br>carol : 06/17/2020<br>carol : 06/16/2020<br>mgross : 08/28/2014<br>mgross : 11/8/2012<br>terry : 10/24/2012<br>carol : 8/15/2011<br>carol : 10/18/2007<br>ckniffin : 10/12/2007<br>carol : 1/22/2007<br>terry : 1/19/2007<br>carol : 5/10/2005<br>terry : 4/21/2005<br>tkritzer : 10/12/2004<br>carol : 10/17/2002<br>alopez : 1/2/2002<br>carol : 12/21/2001<br>carol : 12/21/2001
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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> 606580
|
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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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|
|
OUTER MITOCHONDRIAL MEMBRANE LIPID METABOLISM REGULATOR OPA3; OPA3
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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">
|
|
OPA3 GENE
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: OPA3</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>SNOMEDCT:</strong> 297232009, 719517009;
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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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<p>
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<span class="mim-text-font">
|
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<strong>
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<em>
|
|
Cytogenetic location: 19q13.32
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 19:45,527,427-45,584,802 </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>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
19q13.32
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
3-methylglutaconic aciduria, type III
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
258501
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
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</tr>
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|
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|
|
|
|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Optic atrophy 3 with cataract
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
165300
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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|
|
|
|
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|
|
</tbody>
|
|
</table>
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</div>
|
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</div>
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<div>
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|
<br />
|
|
</div>
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<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>OPA3 is an integral protein of the mitochondrial outer membrane that induces mitochondrial fragmentation (Ryu et al., 2010). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<span class="mim-text-font">
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<p>By genomic sequencing within the critical mapping interval for 3-methylglutaconic aciduria type III (MGCA3; 258501) on chromosome 19, Anikster et al. (2001) identified a point mutation that segregated with the MGCA3 phenotype in the intronic sequence of a gene, designated OPA3, corresponding to cDNA clone FLJ22187. The OPA3 cDNA encodes a deduced 179-amino acid protein. Northern blot analysis demonstrated a primary transcript of approximately 5.0 kb that was ubiquitously expressed, most prominently in skeletal muscle and kidney. Compared to other parts of the brain, the cerebral cortex, the medulla, the cerebellum, and the frontal lobe had slightly increased expression. </p><p>By database analysis and PCR of cultured human fibroblasts, Huizing et al. (2010) cloned 2 splice variants of OPA3. The variants, OPA3A and OPA3B, differ in the splicing of the common exon 1 onto exon 2 or 3, respectively. The deduced OPA3A and OPA3B proteins contain 179 and 180 amino acids, respectively, and are identical for the first 47 N-terminal amino acids, including a putative mitochondrial localization signal. Their C-terminal sequences are also highly homologous and end in putative peroxisomal targeting signals. Real-time quantitative PCR detected tissue-specific expression of both variants in all tissues examined. OPA3A showed highest expression in skeletal muscle and heart, and OPA3B showed highest expression in testis. Fluorescence-tagged OPA3A and OPA3B localized to mitochondria. When mitochondrial localization was blocked, OPA3A, but not OPA3B, localized to peroxisomes. Database analysis revealed conservation of OPA3A from fungi to primates, whereas OPA3B was found only in mammals. </p><p>By fractionation analysis, Ryu et al. (2010) showed that OPA3 localized to the outer membrane of mitochondria in HeLa cells. OPA3 was anchored in the outer membrane with its N-terminal region exposed to the mitochondrial intermembrane space and its C-terminal region exposed to the cytosol. Deletion analysis revealed that the N terminus of OPA3 was required for mitochondrial targeting. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Anikster et al. (2001) determined that the OPA3 gene contains 2 exons. </p><p>Huizing et al. (2010) determined that the OPA3 gene contains 3 exons and spans 57.3 kb. Intron 1 contains a LINE-1 (L2MC4) transposon. Exons 2 and 3 are highly similar and appear to have originated from a segmental duplication. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By sequence analysis, Anikster et al. (2001) mapped the OPA3 gene to chromosome 19q13.2-q13.3. Huizing et al. (2010) mapped the OPA3 gene to chromosome 19q13.32 by genomic sequence analysis. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ryu et al. (2010) found that OPA3 overexpression induced mitochondrial fragmentation in HeLa cells, whereas OPA3-knockdown cells had more elongated and tubular mitochondria compared with controls. The effects of OPA3 on mitochondrial morphology were independent of DRP1 (DNM1L; 603850)- and FIS1 (609003)-mediated mitochondrial fission. Instead, overexpression of OPA3 increased sensitivity to apoptotic signals, whereas depletion of OPA3 protected against apoptotic cell death. Deletion analysis revealed that the hydrophobic region of OPA3 was required for mitochondrial fragmentation. OPA3 function appeared to be evolutionarily conserved, as expression of Drosophila OPA3 rescued mitochondrial morphology in OPA3-knockdown HeLa cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>3-Methylglutaconic Acduria, Type III</em></strong></p><p>
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In 10 Iraqi Jewish patients from 8 different families with 3-methylglutaconic aciduria type III (MGCA3; 258501), Anikster et al. (2001) identified a homozygous splice site mutation in the OPA3 gene (606580.0001). The mutation was also detected in 8 of 85 healthy ethnically matched controls, yielding a carrier frequency of 1 in 10 and indicating a founder effect. The authors suggested that milder mutations of OPA3 should be sought in patients with optic atrophy with later onset, even in the absence of additional neurologic abnormalities. </p><p>In 14 patients with MGCA3, all except one of Iraqi Jewish descent, Yahalom et al. (2014) identified homozygosity for the splice site mutation previously identified by Anikster et al. (2001) in the OPA3 gene. </p><p>In a 14-year-old boy, born of first-cousin Kurdish-Turkish parents, with MGCA3, Kleta et al. (2002) identified homozygosity for a deletion in exon 2 of the OPA3 gene (606580.0004). </p><p>In 2 cousins (family DYAF09), born to consanguineous Pakistani parents, with MGCA3, Arif et al. (2013) identified a homozygous missense mutation in exon 1 of the OPA3 gene (L11Q; 606580.0005). The mutation, which was identified by genomewide homozygosity mapping and exome sequencing, was confirmed by Sanger sequencing. </p><p>In an 18-year-old patient with MGCA3, who was born to nonconsanguineous Indian parents, Ho et al. (2008) identified presumed homozygosity for a nonsense mutation in exon 2 of the OPA3 gene (Q139X; 606580.0006). The father was a carrier for the mutation, but DNA from the mother was not available for testing; Ho et al. (2008) could therefore not exclude the possibility of a deletion of exon 2 on the maternal allele. </p><p><strong><em>Optic Atrophy 3 with Cataract</em></strong></p><p>
|
|
In affected members of 2 families with autosomal dominant optic atrophy and cataract (OPA3; 165300), Reynier et al. (2004) identified 2 different mutations in the OPA3 gene (G93S, 606580.0002 and Q105E, 606580.0003, respectively). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 3-@METHYLGLUTACONIC ACIDURIA, TYPE III</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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OPA3, IVS1AS, G-C, -1
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<br />
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SNP: rs80356523,
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ClinVar: RCV000004461, RCV000798887, RCV001093243
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Anikster et al. (2001) identified an acceptor splice site mutation in the OPA3 gene, IVS1-1G-C, as the cause of 3-methylglutaconic aciduria type III (MGCA3; 258501), or optic atrophy plus syndrome, in several Iraqi Jewish patients. The mutation abolished mRNA expression in the patients' fibroblasts. The mutation was also detected in 8 of 85 healthy ethnically matched controls, yielding a carrier frequency of 1 in 10 and indicating a founder effect. </p><p>In 14 patients with MGCA3, all except one of Iraqi Jewish descent, Yahalom et al. (2014) identified homozygosity for the IVS1-1G-C (c.143-1G-C) mutation in the OPA3 gene. </p><p>In a 5-year-old girl, born of consanguineous Syrian Jewish parents, with MGCA3, Carmi et al. (2015) identified homozygosity for the c.143-1G-C mutation in the OPA3 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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OPA3, GLY93SER
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<br />
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SNP: rs80356524,
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ClinVar: RCV000004462
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In affected members of a French family with autosomal dominant optic atrophy and cataract (OPA3; 165300) first described by Garcin et al. (1961), Reynier et al. (2004) identified a heterozygous 277G-A transition in exon 2 of the OPA3 gene, resulting in a gly93-to-ser (G93S) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
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|
|
OPA3, GLN105GLU
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|
<br />
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|
|
SNP: rs80356525,
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|
|
|
|
ClinVar: RCV000004463, RCV000814602, RCV001092423
|
|
|
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|
|
</span>
|
|
</div>
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|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with autosomal dominant optic atrophy and cataract (OPA3; 165300), Reynier et al. (2004) identified a heterozygous 313C-G transversion in exon 2 of the OPA3 gene, resulting in a gln105-to-glu (Q105E) substitution. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 3-@METHYLGLUTACONIC ACIDURIA, TYPE III</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
OPA3, 18-BP DEL, NT320
|
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|
|
<br />
|
|
|
|
SNP: rs80356526,
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|
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|
|
|
|
|
ClinVar: RCV000004464
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 14-year-old boy, born of first-cousin Kurdish-Turkish parents, with 3-methylglutaconic aciduria type III (MGCA3; 258501), Kleta et al. (2002) identified a homozygous 18-bp deletion in exon 2 of the OPA3 gene, resulting in the deletion of 6 amino acids between codons 108 and 113. As a child, the boy had ataxic gait and 3-methylglutaconic aciduria. Decreased visual acuity with optic atrophy was diagnosed at age 9 years. At age 13, he was physically active with normal intelligence, but had mild ataxic restlessness. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 3-@METHYLGLUTACONIC ACIDURIA, TYPE III</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
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|
|
|
OPA3, LEU11GLN
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs1969907819,
|
|
|
|
|
|
|
|
ClinVar: RCV001175256
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 cousins (family DYAF09) with 3-methylglutaconic aciduria type III (MGCA3; 258501), who were born to consanguineous Pakistani parents, Arif et al. (2013) identified a homozygous c.32T-A transversion (c.32T-A, NM_015136) in exon 1 of the OPA3 gene, resulting in a leu11-to-gln (L11Q) substitution at an evolutionarily conserved residue. The mutation, which was identified by genomewide homozygosity mapping and exome sequencing, was verified by Sanger sequencing and segregated with the disease in the family. The variant was not present in the NHLBI Exome Variant Project database or in 342 Pakistani controls. The mutation affects both OPA3 transcripts (OPA3A and OPA3B) and is located within a potential mitochondrial leader sequence, possibly causing abnormalities in mitochondrial targeting. Both patients also had a homozygous mutation in the TSHZ3 gene (c.941C-G, A314G) that segregated with the disorder in the family. The authors considered the OPA3 mutation to be pathogenic because of the clinical features known to be associated with OPA3 mutations, but could not exclude a possible modifying role for the TSHZ3 mutation. Both patients had optic disc pallor and choreiform and myoclonic movements. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 3-@METHYLGLUTACONIC ACIDURIA, TYPE III</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
OPA3, GLN314TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28937899,
|
|
|
|
|
|
|
|
ClinVar: RCV000020909
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 18-year-old patient with 3-methylglutaconic aciduria type III (MGCA3; 258501), who was born to nonconsanguineous Indian parents, Ho et al. (2008) identified a homozygous c.415C-T transition (c.415C-T, NM_025136.2) in exon 2 of the OPA3 gene, resulting in a gln139-to-ter (Q139X) substitution. The early termination codon was predicted to lead to nonsense mediated decay of the OPA3 transcript. The mutation, which was found by Sanger sequencing, was present in heterozygous state in the father, but DNA from the mother was not available for testing. Ho et al. (2008) could not exclude the possibility that the patient had inherited deletion of exon 2 from her mother. The patient had elevated 3-methylglutaconic acid and 3-methylglutaric acid in the urine. She had bilateral optic atrophy and mild ataxia and spasticity. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Anikster, Y., Kleta, R., Shaag, A., Gahl, W. A., Elpeleg, O.
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|
<strong>Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.</strong>
|
|
Am. J. Hum. Genet. 69: 1218-1224, 2001.
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[PubMed: 11668429]
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[Full Text: https://doi.org/10.1086/324651]
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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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Arif, B., Kumar, K. R., Seibler, P., Vulinovic, F., Fatima, A., Winkler, S., Nurnberg, G., Thiele, H., Nurnberg, P., Jamil, A. Z., Bruggemann, A., Abbas, G., Klein, C., Lohmann, K.
|
|
<strong>A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.</strong>
|
|
JAMA Neurol. 70: 783-787, 2013.
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[PubMed: 23700088]
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[Full Text: https://doi.org/10.1001/jamaneurol.2013.1174]
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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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Carmi, N., Lev, D., Leshinsky-Silver, E., Anikster, Y., Blumkin, L., Kivity, S., Lerman-Sagie, T., Zerem, A.
|
|
<strong>Atypical presentation of Costeff syndrome--severe psychomotor involvement and electrical status epilepticus during slow wave sleep.</strong>
|
|
Europ. J. Paediat. Neurol. 19: 733-736, 2015.
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[PubMed: 26190011]
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[Full Text: https://doi.org/10.1016/j.ejpn.2015.06.006]
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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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Garcin, R., Raverdy, P., Delthil, S., Man, H. X., Chimenes, H.
|
|
<strong>Sur une affection heredo-familiale associant cataracte, atrophie optique, signes extra-pyramidaux et certains stigmates de la maladie de Friedreich. (Sa position nosologique par rapport au syndrome de Behr, au syndrome de Marinesco-Sjogren et a la maladie de Friedreich avec signes oculaires.).</strong>
|
|
Rev. Neurol. 104: 373-379, 1961.
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[PubMed: 13703570]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ho, G., Walter, J. H., Christodoulou, J.
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<strong>Costeff optic atrophy syndrome: new clinical case and novel molecular findings.</strong>
|
|
J. Inherit. Metab. Dis. 31 (Suppl. 2): S419-S423, 2008.
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[PubMed: 18985435]
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[Full Text: https://doi.org/10.1007/s10545-008-0981-z]
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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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Huizing, M., Dorward, H., Ly, L., Klootwijk, E., Kleta, R., Skovby, F., Pei, W., Feldman, B., Gahl, W. A., Anikster, Y.
|
|
<strong>OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.</strong>
|
|
Molec. Genet. Metab. 100: 149-154, 2010.
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[PubMed: 20350831]
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[Full Text: https://doi.org/10.1016/j.ymgme.2010.03.005]
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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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Kleta, R., Skovby, F., Christensen, E., Rosenberg, T., Gahl, W. A., Anikster, Y.
|
|
<strong>3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.</strong>
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Molec. Genet. Metab. 76: 201-206, 2002.
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[Full Text: https://doi.org/10.1016/s1096-7192(02)00047-1]
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Reynier, P., Amati-Bonneau, P., Verny, C., Olichon, A., Simard, G., Guichet, A., Bonnemains, C., Malecaze, F., Malinge, M. C., Pelletier, J. B., Calvas, P., Dollfus, H., Belenguer, P., Malthiery, Y., Lenaers, G., Bonneau, D.
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<strong>OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.</strong>
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J. Med. Genet. 41: e110, 2004. Note: Electronic Article.
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[Full Text: https://doi.org/10.1136/jmg.2003.016576]
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Ryu, S. W., Jeong, H. J., Choi, M., Karbowski, M., Choi, C.
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<strong>Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation.</strong>
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[PubMed: 20372962]
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[Full Text: https://doi.org/10.1007/s00018-010-0365-z]
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Yahalom, G., Anikster, Y., Huna-Baron, R., Hoffmann, C., Blumkin, L., Lev, D., Tsabari, R., Nitsan, Z., Lerman, S. F., Ben-Zeev, B., Pode-Shakked, B., Sofer, S., Schweiger, A., Lerman-Sagie, T., Hassin-Baer, S.
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<strong>Costeff syndrome: clinical features and natural history.</strong>
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[PubMed: 25201222]
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[Full Text: https://doi.org/10.1007/s00415-014-7481-x]
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Bao Lige - updated : 03/23/2023<br>Hilary J. Vernon - updated : 06/16/2020<br>Patricia A. Hartz - updated : 10/24/2012<br>Cassandra L. Kniffin - updated : 10/12/2007<br>Victor A. McKusick - updated : 10/12/2004
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Victor A. McKusick : 12/21/2001
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