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<title>
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Entry
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- *185620 - SURFEIT 1; SURF1
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- OMIM
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</ul>
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<div class="row">
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<p />
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*185620</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#evolution">Evolution</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/185620">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div 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=ENSG00000148290;t=ENST00000371974" 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=6834" 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=185620" 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=ENSG00000148290;t=ENST00000371974" 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_001280787,NM_003172" 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_003172" 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=185620" 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=01711&isoform_id=01711_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/SURF1" 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/895849,2498973,3445290,4507319,20271430,48734717,55958185,55958186,119608473,158255680,311348978,311348980,311348982,311348984,311348986,311348988,311348990,311348992,311348994,311348996,311348998,311349000,311349002,311349004,311349006,311349008,311349010,311349012,311349014,311349016,311349018,311349020,311349022,311349024,311349026,311349028,311349030,311349032,311349034,311349036,311349038,311349040,311349042,311349044,311349046,311349048,311349050,311349052,311349054,311349056,526118120,957950224,957950227,957950230" 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/Q15526" 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=6834" 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=ENSG00000148290;t=ENST00000371974" 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=SURF1" 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=SURF1" 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+6834" 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/SURF1" 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:6834" 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/6834" 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=chr9&hgg_gene=ENST00000371974.8&hgg_start=133351758&hgg_end=133356487&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11474" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:11474" 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/surf1" 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=185620[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=185620[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/ENSG00000148290" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=SURF1" 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=SURF1" 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=SURF1&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/PA36259" 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:11474" 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/FBgn0029117.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:98443" 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/SURF1#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:98443" 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/6834/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002147/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=6834" 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=WBGene00004787;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-041108-2" 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="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:185620" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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=SURF1&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> 765047006<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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185620
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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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SURFEIT 1; SURF1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SURF1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SURF1</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/9/612?start=-3&limit=10&highlight=612">9q34.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:133351758-133356487&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'})">9:133,351,758-133,356,487</a> </span>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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Charcot-Marie-Tooth disease, type 4K
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Mitochondrial complex IV deficiency, nuclear type 1
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>The SURF1 gene encodes an assembly factor of mitochondrial complex IV (COX), the terminal component of the mitochondrial respiratory chain (summary by <a href="#6" class="mim-tip-reference" title="Echaniz-Laguna, A., Ghezzi, D., Chassagne, M., Mayencon, M., Padet, S., Melchionda, L., Rouvet, I., Lannes, B., Bozon, D., Latour, P., Zeviani, M., Mousson de Camaret, B. <strong>SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.</strong> Neurology 81: 1523-1530, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24027061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24027061</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24027061[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/10.1212/WNL.0b013e3182a4a518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24027061">Echaniz-Laguna et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24027061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using mouse Surf1 cDNA as probe, <a href="#7" class="mim-tip-reference" title="Lennard, A., Gaston, K., Fried, M. <strong>The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human.</strong> DNA Cell Biol. 13: 1117-1126, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7702754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7702754</a>] [<a href="https://doi.org/10.1089/dna.1994.13.1117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7702754">Lennard et al. (1994)</a> cloned human SURF1 from placenta and HeLa cell cDNA libraries. The deduced 300-amino acid protein shares 77% identity with mouse Surf1. Although mouse Surf1 is expressed as 3 alternatively spliced transcripts, <a href="#7" class="mim-tip-reference" title="Lennard, A., Gaston, K., Fried, M. <strong>The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human.</strong> DNA Cell Biol. 13: 1117-1126, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7702754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7702754</a>] [<a href="https://doi.org/10.1089/dna.1994.13.1117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7702754">Lennard et al. (1994)</a> found evidence for only 1 human SURF1 cDNA by PCR analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7702754" 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="#23" class="mim-tip-reference" title="Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., Brown, G. K., Brown, R. M., Shoubridge, E. A. <strong>SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.</strong> Nature Genet. 20: 337-343, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843204</a>] [<a href="https://doi.org/10.1038/3804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843204">Zhu et al. (1998)</a> reported that the SURF1 gene encodes a deduced 300-amino acid protein that shares 25.6% sequence homology with the yeast SHY1 homolog. Both proteins have a characteristic mitochondrial targeting sequence in the N terminus and 2 putative conserved transmembrane domains. Expression of human SURF1 cDNA with a C-terminal tag in COS-7 cells colocalized SURF1 with a mitochondrial marker. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843204" 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="#7" class="mim-tip-reference" title="Lennard, A., Gaston, K., Fried, M. <strong>The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human.</strong> DNA Cell Biol. 13: 1117-1126, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7702754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7702754</a>] [<a href="https://doi.org/10.1089/dna.1994.13.1117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7702754">Lennard et al. (1994)</a> found that the major start sites of the SURF1 and SURF2 (<a href="/entry/185630">185630</a>) genes are separated by 97 bp, although both genes have multiple transcription start sites. The intergenic region is expected to have bidirectional promoter activity, as is found in mouse. This region lacks a TATA box, but is GC-rich. DNase footprint analysis showed 4 regions that interacted with HeLa cell nuclear factor complexes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7702754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Duhig, T., Ruhrberg, C., Mor, O., Fried, M. <strong>The human surfeit locus.</strong> Genomics 52: 72-78, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9740673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9740673</a>] [<a href="https://doi.org/10.1006/geno.1998.5372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9740673">Duhig et al. (1998)</a> stated that the 5-prime end of each of the surfeit genes, including SURF1, is contained within a CpG island. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9740673" 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>The mouse surfeit gene cluster contains 6 closely spaced housekeeping genes, designated Surf1 to Surf6, unrelated by sequence homology (<a href="#20" class="mim-tip-reference" title="Williams, T., Yon, J., Huxley, C., Fried, M. <strong>The mouse surfeit locus contains a very tight cluster of four 'housekeeping' genes which is conserved through evolution.</strong> Proc. Nat. Acad. Sci. 85: 3527-3530, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2453062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2453062</a>] [<a href="https://doi.org/10.1073/pnas.85.10.3527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2453062">Williams et al., 1988</a>; <a href="#3" class="mim-tip-reference" title="Colombo, P., Yon, J., Garson, K., Fried, M. <strong>Conservation of the organization of five tightly clustered genes over 600 million years of divergent evolution.</strong> Proc. Nat. Acad. Sci. 89: 6358-6362, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1631131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1631131</a>] [<a href="https://doi.org/10.1073/pnas.89.14.6358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1631131">Colombo et al., 1992</a>). No more than 73 basepairs separate any 2 of the 4 well-characterized surfeit cluster genes. Using an interspecies backcross, <a href="#14" class="mim-tip-reference" title="Stubbs, L., Huxley, C., Hogan, B., Evans, T., Fried, M., Duboule, D., Lehrach, H. <strong>The HOX-5 and surfeit gene clusters are linked in the proximal portion of mouse chromosome 2.</strong> Genomics 6: 645-650, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1971250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1971250</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90499-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1971250">Stubbs et al. (1990)</a> mapped the surfeit and Hox-5 gene clusters to the proximal portion of mouse chromosome 2. Surf is close to the protooncogene Abl, near the centromere of mouse chromosome 2. <a href="#20" class="mim-tip-reference" title="Williams, T., Yon, J., Huxley, C., Fried, M. <strong>The mouse surfeit locus contains a very tight cluster of four 'housekeeping' genes which is conserved through evolution.</strong> Proc. Nat. Acad. Sci. 85: 3527-3530, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2453062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2453062</a>] [<a href="https://doi.org/10.1073/pnas.85.10.3527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2453062">Williams et al. (1988)</a> found that juxtaposition of 4 of the genes was conserved in the human surfeit gene cluster. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2453062+1631131+1971250" 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 methods of nucleic acid hybridization using somatic cell hybrids and by in situ hybridization, <a href="#22" class="mim-tip-reference" title="Yon, J., Palmer, R. W., Sheer, D., Fried, M. <strong>Localization of the surfeit gene cluster containing the ribosomal protein gene L7a to chromosome bands 9q33-34.</strong> Ann. Hum. Genet. 53: 149-155, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2596824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2596824</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1989.tb01779.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2596824">Yon et al. (1989)</a> localized the human surfeit gene cluster to chromosome bands 9q33-q34. <a href="#21" class="mim-tip-reference" title="Yon, J., Jones, T., Garson, K., Sheer, D., Fried, M. <strong>The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-ABL and CAN proto-oncogenes at chromosome band 9q34.1.</strong> Hum. Molec. Genet. 2: 237-240, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8499913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8499913</a>] [<a href="https://doi.org/10.1093/hmg/2.3.237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8499913">Yon et al. (1993)</a> confirmed the localization of the surfeit cluster in 9q34 by fluorescence in situ hybridization and showed that the organization and juxtaposition of the human surfeit locus genes are the same as in the mouse. Furthermore, analysis by FISH of metaphase spreads from human chronic myeloid leukemic cells containing the t(9;22)(q34;q11) translocation involving the ABL gene (<a href="/entry/189980">189980</a>) at 9q34.1 and acute nonlymphocytic leukemic cells containing the t(6;9)(p23;q34) translocation involving the CAN gene (<a href="/entry/114350">114350</a>) at 9q34.1 demonstrated that the surfeit cluster is telomeric to these 2 genes. <a href="#21" class="mim-tip-reference" title="Yon, J., Jones, T., Garson, K., Sheer, D., Fried, M. <strong>The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-ABL and CAN proto-oncogenes at chromosome band 9q34.1.</strong> Hum. Molec. Genet. 2: 237-240, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8499913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8499913</a>] [<a href="https://doi.org/10.1093/hmg/2.3.237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8499913">Yon et al. (1993)</a> commented that tuberous sclerosis-1 (<a href="/entry/191100">191100</a>) and nail-patella syndrome (NPS1; <a href="/entry/161200">161200</a>) are distal to ABL. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2596824+8499913" 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="#3" class="mim-tip-reference" title="Colombo, P., Yon, J., Garson, K., Fried, M. <strong>Conservation of the organization of five tightly clustered genes over 600 million years of divergent evolution.</strong> Proc. Nat. Acad. Sci. 89: 6358-6362, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1631131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1631131</a>] [<a href="https://doi.org/10.1073/pnas.89.14.6358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1631131">Colombo et al. (1992)</a> found that tight clustering and juxtaposition of at least 5 of the surfeit genes, numbered 1 through 5, and their associated CpG-rich islands are conserved over the 600 million years of divergent evolution that separates birds and mammals. They suggested that surfeit represents a different form of gene cluster in which gene organization may play both a positive and a negative regulatory role in gene expression, possibly via cis interactions between the closely spaced genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1631131" 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="#23" class="mim-tip-reference" title="Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., Brown, G. K., Brown, R. M., Shoubridge, E. A. <strong>SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.</strong> Nature Genet. 20: 337-343, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843204</a>] [<a href="https://doi.org/10.1038/3804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843204">Zhu et al. (1998)</a> presented data indicating that SURF1 encodes a putative assembly or maintenance factor which, in humans, appears to be specific for the cytochrome c oxidase (COX) complex. See MOLECULAR GENETICS section. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using antibodies against a recombinant, labeled SURF1 protein in COS-7 cells, <a href="#16" class="mim-tip-reference" title="Tiranti, V., Galimberti, C., Nijtmans, L., Bovolenta, S., Perini, M. P., Zeviani, M. <strong>Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.</strong> Hum. Molec. Genet. 8: 2533-2540, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10556302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10556302</a>] [<a href="https://doi.org/10.1093/hmg/8.13.2533" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10556302">Tiranti et al. (1999)</a> demonstrated that the protein is imported into the mitochondria as a larger 35-kD precursor which is then processed into the mature 30-kD product by the cleaving off of a 40-amino acid N-terminal leader polypeptide. Western blot analysis showed that SURF1 is localized in and tightly bound to the inner mitochondrial membrane. Cell lines with loss-of-function SURF1 mutations had no detectable protein and no SURF1 transcripts, suggesting severe mRNA instability. Two-dimensional gel electrophoresis experiments on SURF1 mutant and control cell lines showed that COX assembly in SURF1 mutants was blocked at an early step, most likely before the incorporation of subunit II in the nascent intermediates composed of subunit I alone or subunit I plus subunit IV. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10556302" 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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Using microcell-mediated chromosome transfer, <a href="#23" class="mim-tip-reference" title="Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., Brown, G. K., Brown, R. M., Shoubridge, E. A. <strong>SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.</strong> Nature Genet. 20: 337-343, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843204</a>] [<a href="https://doi.org/10.1038/3804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843204">Zhu et al. (1998)</a> mapped the gene defect in COX deficiency to 9q34 by complementation of the respiratory chain deficiency in patient fibroblasts, and SURF1 became a positional candidate gene. Analysis of SURF1 revealed several homozygous or compound heterozygous mutations (see, e.g., <a href="#0001">185620.0001</a>), all of which predicted a truncated protein. The findings suggested a role for SURF1 in the biogenesis of the COX complex and defined a new class of gene defects causing human neurodegenerative disease. Cytochrome c oxidase (COX) deficiency caused by mutation in the SURF1 gene (MC4DN1; <a href="/entry/220110">220110</a>) is often manifest as Leigh syndrome (LS; see <a href="/entry/256000">256000</a>), also known as infantile subacute necrotizing encephalopathy (SNE), a severe neurologic disorder characterized by bilaterally symmetric necrotic lesions in subcortical brain regions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843204" 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 the mapping done by microcell-mediated chromosome transfer, <a href="#23" class="mim-tip-reference" title="Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., Brown, G. K., Brown, R. M., Shoubridge, E. A. <strong>SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.</strong> Nature Genet. 20: 337-343, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843204</a>] [<a href="https://doi.org/10.1038/3804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843204">Zhu et al. (1998)</a> transferred all 22 autosomes and the X chromosome, one at a time, into a patient fibroblast line, to demonstrate correction of the metabolic defect by chromosome 9. To refine the map position of the defective gene on chromosome 9, <a href="#23" class="mim-tip-reference" title="Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., Brown, G. K., Brown, R. M., Shoubridge, E. A. <strong>SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.</strong> Nature Genet. 20: 337-343, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843204</a>] [<a href="https://doi.org/10.1038/3804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843204">Zhu et al. (1998)</a> introduced deleted versions of chromosome 9. The localization was narrowed further by excluding regions of 9q by use of DNA markers in 2 small families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843204" 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="#23" class="mim-tip-reference" title="Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., Brown, G. K., Brown, R. M., Shoubridge, E. A. <strong>SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.</strong> Nature Genet. 20: 337-343, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843204</a>] [<a href="https://doi.org/10.1038/3804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843204">Zhu et al. (1998)</a> showed that COX deficiency could be 'rescued' by SURF1 cDNA in patient fibroblasts. They suggested that the functional complementation approach could serve as a paradigm to map and clone other nuclear genes associated with respiratory chain disorders, such as mtDNA depletion syndrome (see <a href="/entry/251880">251880</a>) or complex I-deficient Leigh syndrome (see <a href="/entry/252010">252010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843204" 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="#17" class="mim-tip-reference" title="Tiranti, V., Hoertnagel, K., Carrozzo, R., Galimberti, C., Munaro, M., Grantiero, M., Zelante, L., Gasparini, P., Marzella, R., Rocchi, M., Bayona-Bafaluy, M. P., Enriquez, J.-A., Uziel, G., Bertini, E., Dionisi-Vici, C., Franco, B., Meitinger, T., Zeviani, M. <strong>Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.</strong> Am. J. Hum. Genet. 63: 1609-1621, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837813</a>] [<a href="https://doi.org/10.1086/302150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9837813">Tiranti et al. (1998)</a> used complementation assays based on the fusion of cytochrome c oxidase-negative Leigh disease cell lines with several rodent/human hybrid cells that had been made rho(0), i.e., deprived of their own mtDNA by prolonged exposure to high doses of ethidium bromide, to identify a COX-negative Leigh disease locus. Complementation of the COX defect was obtained only with rodent/human rho(0) hybrids that contained human chromosome 9. Linkage analysis restricted the disease locus to the subtelomeric region of 9q, within the 7-cM interval between markers D9S1847 and D9S1826. They sought mutations in candidate genes in the region, including SURF1, the yeast homolog (SHY1) of which encodes a mitochondrial protein necessary for the maintenance of COX activity and respiration. <a href="#17" class="mim-tip-reference" title="Tiranti, V., Hoertnagel, K., Carrozzo, R., Galimberti, C., Munaro, M., Grantiero, M., Zelante, L., Gasparini, P., Marzella, R., Rocchi, M., Bayona-Bafaluy, M. P., Enriquez, J.-A., Uziel, G., Bertini, E., Dionisi-Vici, C., Franco, B., Meitinger, T., Zeviani, M. <strong>Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.</strong> Am. J. Hum. Genet. 63: 1609-1621, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837813</a>] [<a href="https://doi.org/10.1086/302150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9837813">Tiranti et al. (1998)</a> found that SURF1 was mutated in the probands of 9 COX-negative Leigh disease families; in the probands of 6 families, loss-of-function mutations were found on both alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9837813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Poyau, A., Buchet, K., Bouzidi, M. F., Zabot, M.-T., Echenne, B., Yao, J., Shoubridge, E. A., Godinot, C. <strong>Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.</strong> Hum. Genet. 106: 194-205, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10746561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10746561</a>] [<a href="https://doi.org/10.1007/s004390051028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10746561">Poyau et al. (2000)</a> studied fibroblasts from 3 patients suffering from Leigh syndrome associated with cytochrome c oxidase deficiency. Their mitochondrial DNA was functional and all nuclear COX subunits had normal sequences. The expression of transcripts encoding mitochondrial and nuclear COX subunits was normal or slightly increased. Similarly, the OXA1L (<a href="/entry/601066">601066</a>) transcript coding for a protein involved in COX assembly was increased. However, several COX-protein subunits were severely depressed, indicating deficient COX assembly. Sequence analysis of SURF1 in these 3 patients revealed 7 heterozygous mutations, 6 of which were new: an insertion, a nonsense mutation, a splicing mutation at intron 7, and 3 missense mutations. The gly124-to-glu mutation (<a href="#0012">185620.0012</a>) changed a gly that is strictly conserved in Surf1 homologs of 12 species. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10746561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Pequignot, M. O., Dey, R., Zeviani, M., Tiranti, V., Godinot, C., Poyau, A., Sue, C., Di Mauro, S., Abitbol, M., Marsac, C. <strong>Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency.</strong> Hum. Mutat. 17: 374-381, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11317352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11317352</a>] [<a href="https://doi.org/10.1002/humu.1112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11317352">Pequignot et al. (2001)</a> stated that 30 different mutations in SURF1 had been reported in 40 unrelated patients. Twenty mutations had been described only once. The most frequent mutation involved a deletion of 10 bp and an insertion of 2 bp (AT) (<a href="#0003">185620.0003</a>); this mutation was found in 12 of 40 patients, and was homozygous in 3 of them. The second most frequent mutation was a deletion of 2 bp, CT at position 845-846 (<a href="#0014">185620.0014</a>); this mutation was found in 9 of 40 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11317352" 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 18 of 24 (75%) patients with COX-deficient Leigh syndrome, <a href="#18" class="mim-tip-reference" title="Tiranti, V., Jaksch, M., Hofmann, S., Galimberti, C., Hoertnagel, K., Lulli, L., Freisinger, P., Bindoff, L., Gerbitz, K. D., Comi, G.-P., Uziel, G., Zeviani, M., Meitinger, T. <strong>Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.</strong> Ann. Neurol. 46: 161-166, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10443880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10443880</a>] [<a href="https://doi.org/10.1002/1531-8249(199908)46:2<161::aid-ana4>3.0.co;2-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10443880">Tiranti et al. (1999)</a> identified 13 different mutations in the SURF1 gene. All of the mutations, including frameshift, nonsense, and splice site mutations, were predicted to result in loss of protein function. No missense mutations were identified. In addition, no SURF1 mutations were found in 6 patients with COX deficiency classified as 'Leigh-like' or in 16 patients with COX deficiency classified as 'non-LS.' <a href="#18" class="mim-tip-reference" title="Tiranti, V., Jaksch, M., Hofmann, S., Galimberti, C., Hoertnagel, K., Lulli, L., Freisinger, P., Bindoff, L., Gerbitz, K. D., Comi, G.-P., Uziel, G., Zeviani, M., Meitinger, T. <strong>Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.</strong> Ann. Neurol. 46: 161-166, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10443880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10443880</a>] [<a href="https://doi.org/10.1002/1531-8249(199908)46:2<161::aid-ana4>3.0.co;2-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10443880">Tiranti et al. (1999)</a> concluded that SURF1 mutations are specifically associated with LS and that SURF1 is the gene responsible for most of the COX-deficient cases of LS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10443880" 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 3 cases of COX deficiency manifest as Leigh syndrome, <a href="#8" class="mim-tip-reference" title="Moslemi, A.-R., Tulinius, M., Darin, N., Aman, P., Holme, E., Oldfors, A. <strong>SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.</strong> Neurology 61: 991-993, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557577</a>] [<a href="https://doi.org/10.1212/01.wnl.0000082391.98672.0a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14557577">Moslemi et al. (2003)</a> identified 4 pathogenic mutations in the SURF1 gene, including 2 novel mutations. In all cases, the patients' fibroblasts showed reduced COX activity, which was restored after transfection with normal SURF1 cDNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14557577" 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="#9" class="mim-tip-reference" title="Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., Zecha, A., Mohseni, M., and 33 others. <strong>Deep sequencing reveals 50 novel genes for recessive cognitive disorders.</strong> Nature 478: 57-63, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21937992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21937992</a>] [<a href="https://doi.org/10.1038/nature10423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21937992">Najmabadi et al. (2011)</a> performed homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian and less than 10% Turkish or Arab) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability. In family G008, they identified homozygosity for a missense mutation in the SURF1 gene (<a href="#0015">185620.0015</a>) in 2 sibs with mild intellectual disability, ataxia, short stature, and facial dysmorphism, diagnosed as a mild form of Leigh syndrome. The parents were first cousins and had 2 healthy children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21937992" 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>Charcot-Marie-Tooth Disease, Demyelinating, Type 4K</em></strong></p><p>
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In 3 patients from 2 unrelated families with autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K (CMT4K; <a href="/entry/616684">616684</a>), <a href="#6" class="mim-tip-reference" title="Echaniz-Laguna, A., Ghezzi, D., Chassagne, M., Mayencon, M., Padet, S., Melchionda, L., Rouvet, I., Lannes, B., Bozon, D., Latour, P., Zeviani, M., Mousson de Camaret, B. <strong>SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.</strong> Neurology 81: 1523-1530, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24027061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24027061</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24027061[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/10.1212/WNL.0b013e3182a4a518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24027061">Echaniz-Laguna et al. (2013)</a> identified homozygous or compound heterozygous mutations in the SURF1 gene (<a href="#0016">185620.0016</a>-<a href="#0018">185620.0018</a>). Western blot analysis of mitochondria-enriched preparations of patient fibroblasts from 1 of the families showed virtual absence of the SURF1 protein. Fully assembled COX was also markedly reduced. In the whole cohort, SURF1 mutations were found in 2 (5%) of 41 families with autosomal recessive demyelinating CMT after exclusion of mutations in known CMT4-related genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24027061" 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="Agostino, A., Invernizzi, F., Tiveron, C., Fagiolari, G., Prelle, A., Lamantea, E., Giavazzi, A., Battaglia, G., Tatangelo, L., Tiranti, V., Zeviani, M. <strong>Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.</strong> Hum. Molec. Genet. 12: 399-413, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12566387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12566387</a>] [<a href="https://doi.org/10.1093/hmg/ddg038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12566387">Agostino et al. (2003)</a> created a constitutive knockout mouse for Surf1 by replacing exons 5 to 7 of Surf1 with a neomycin-resistance (neo) cassette. Postimplantation embryonic lethality affected 90% of Surf1 -/- homozygotes; approximately 30% of liveborn animals died within the first postnatal month, and an additional 15% died within the first 6 months of life. Significant deficit in muscle strength and motor performance was observed, without obvious abnormalities in brain morphology or overt neurologic symptoms. A profound and isolated defect of COX activity in skeletal muscle and liver was detected, and reduced histochemical reaction to COX and mitochondrial proliferation in skeletal muscle was present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12566387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Dell'Agnello, C., Leo, S., Agostino, A., Szabadkai, G., Tiveron, C., Zulian, A., Prelle, A., Roubertoux, P., Rizzuto, R., Zeviani, M. <strong>Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice.</strong> Hum. Molec. Genet. 16: 431-444, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17210671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17210671</a>] [<a href="https://doi.org/10.1093/hmg/ddl477" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17210671">Dell'Agnello et al. (2007)</a> created Surf1 -/- mice by inserting a loxP sequence in exon 7, which resulted in a truncated Surf1 protein that was not expressed. These Surf1 -/- mice were born at the expected mendelian frequency, indicating that the lethality observed in the previous Surf1 -/- mouse model (<a href="#1" class="mim-tip-reference" title="Agostino, A., Invernizzi, F., Tiveron, C., Fagiolari, G., Prelle, A., Lamantea, E., Giavazzi, A., Battaglia, G., Tatangelo, L., Tiranti, V., Zeviani, M. <strong>Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.</strong> Hum. Molec. Genet. 12: 399-413, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12566387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12566387</a>] [<a href="https://doi.org/10.1093/hmg/ddg038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12566387">Agostino et al., 2003</a>) was not caused by ablation of Surf1 itself, but rather by the presence of the neo cassette or by the elimination of regulatory elements in the deleted region. The Surf1 -/- mice created by <a href="#4" class="mim-tip-reference" title="Dell'Agnello, C., Leo, S., Agostino, A., Szabadkai, G., Tiveron, C., Zulian, A., Prelle, A., Roubertoux, P., Rizzuto, R., Zeviani, M. <strong>Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice.</strong> Hum. Molec. Genet. 16: 431-444, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17210671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17210671</a>] [<a href="https://doi.org/10.1093/hmg/ddl477" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17210671">Dell'Agnello et al. (2007)</a> showed no neurologic or extraneurologic defects, although they had a mild defect in COX assembly and activity. Surf1 -/- animals had a prolonged life span and resistance to the Ca(2+)-dependent excitotoxic activity of kainic acid compared with wildtype animals. Primary cultures of Surf1 -/- neurons showed resistance to glutamate toxicity, reduced glutamate-induced increase in Ca(2+) in both cytosolic and mitochondrial compartments, and reduced mitochondrial Ca(2+) uptake compared with controls. <a href="#4" class="mim-tip-reference" title="Dell'Agnello, C., Leo, S., Agostino, A., Szabadkai, G., Tiveron, C., Zulian, A., Prelle, A., Roubertoux, P., Rizzuto, R., Zeviani, M. <strong>Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice.</strong> Hum. Molec. Genet. 16: 431-444, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17210671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17210671</a>] [<a href="https://doi.org/10.1093/hmg/ddl477" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17210671">Dell'Agnello et al. (2007)</a> concluded that the effects of Surf1 ablation on Ca(2+) homeostasis, and possibly on longevity, may be independent from those on COX assembly and mitochondrial bioenergetics. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12566387+17210671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918657 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918657;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918657?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918657" 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=rs121918657" 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 patient with mitochondrial complex IV deficiency nuclear type 1 (MC4DN1; <a href="/entry/220110">220110</a>) manifest as Leigh syndrome (see <a href="/entry/256000">256000</a>), <a href="#23" class="mim-tip-reference" title="Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., Brown, G. K., Brown, R. M., Shoubridge, E. A. <strong>SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.</strong> Nature Genet. 20: 337-343, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843204</a>] [<a href="https://doi.org/10.1038/3804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843204">Zhu et al. (1998)</a> identified compound heterozygosity for a 765C-T nonsense mutation in exon 7 and a 337+2T-C mutation in the donor splice site of intron 4 (<a href="#0002">185620.0002</a>) of the SURF1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843204" 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>See <a href="#0001">185620.0001</a> and <a href="#23" class="mim-tip-reference" title="Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., Brown, G. K., Brown, R. M., Shoubridge, E. A. <strong>SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.</strong> Nature Genet. 20: 337-343, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843204</a>] [<a href="https://doi.org/10.1038/3804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843204">Zhu et al. (1998)</a>. The donor splice site mutation led to deletion of exon 4; this appeared to result from the use of a cryptic donor sequence (GT) at the 5-prime end of exon 4, which caused the removal of exon and intron 4 when the wildtype donor consensus sequence in intron 4 was mutated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843204" 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">rs863224228 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863224228;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=rs863224228" 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=rs863224228" 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 patient with mitochondrial complex IV deficiency (MC4DN1; <a href="/entry/220110">220110</a>) manifest as Leigh syndrome, <a href="#23" class="mim-tip-reference" title="Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., Brown, G. K., Brown, R. M., Shoubridge, E. A. <strong>SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.</strong> Nature Genet. 20: 337-343, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843204</a>] [<a href="https://doi.org/10.1038/3804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843204">Zhu et al. (1998)</a> identified compound heterozygosity for an insertion/deletion mutation in exon 4 (326insATdelTCTGCCAGCC), which created a nonsense codon at the site of the mutation, and a 2-bp deletion in exon 9 which removed 1 of the 3 CT repeats between positions 855 and 860. The latter mutation was designated 855delCT (<a href="#0004">185620.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Poyau, A., Buchet, K., Bouzidi, M. F., Zabot, M.-T., Echenne, B., Yao, J., Shoubridge, E. A., Godinot, C. <strong>Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.</strong> Hum. Genet. 106: 194-205, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10746561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10746561</a>] [<a href="https://doi.org/10.1007/s004390051028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10746561">Poyau et al. (2000)</a> found the insertion/deletion mutation in compound heterozygosity with a gly124-to-glu mutation (<a href="#0012">185620.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10746561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs782316919 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs782316919;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs782316919?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs782316919" 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=rs782316919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>See <a href="#0003">185620.0003</a> and <a href="#23" class="mim-tip-reference" title="Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., Brown, G. K., Brown, R. M., Shoubridge, E. A. <strong>SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.</strong> Nature Genet. 20: 337-343, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843204</a>] [<a href="https://doi.org/10.1038/3804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843204">Zhu et al. (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs782061187 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs782061187;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs782061187?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs782061187" 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=rs782061187" 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=RCV000622343 OR RCV002248820 OR RCV003155251" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000622343, RCV002248820, RCV003155251" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000622343...</a>
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<p>In a patient with mitochondrial complex IV deficiency (MC4DN1; <a href="/entry/220110">220110</a>) manifest as Leigh syndrome, <a href="#23" class="mim-tip-reference" title="Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., Brown, G. K., Brown, R. M., Shoubridge, E. A. <strong>SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.</strong> Nature Genet. 20: 337-343, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843204</a>] [<a href="https://doi.org/10.1038/3804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843204">Zhu et al. (1998)</a> found homozygosity for insertion of a T into a string of Ts, creating a nonsense codon. The mutation was designated 882insT. This and 4 other mutations found by <a href="#23" class="mim-tip-reference" title="Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., Brown, G. K., Brown, R. M., Shoubridge, E. A. <strong>SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.</strong> Nature Genet. 20: 337-343, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843204</a>] [<a href="https://doi.org/10.1038/3804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843204">Zhu et al. (1998)</a> in cases of Leigh syndrome predicted a truncated protein product. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918657 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918657;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918657?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918657" 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=rs121918657" 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=RCV000013599 OR RCV000589222 OR RCV000599426 OR RCV003314553 OR RCV005042037" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013599, RCV000589222, RCV000599426, RCV003314553, RCV005042037" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013599...</a>
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<p>In their family G with mitochondrial complex IV deficiency nuclear type 1 (MC4DN1; <a href="/entry/220110">220110</a>) manifest as Leigh syndrome (see <a href="/entry/256000">256000</a>), <a href="#17" class="mim-tip-reference" title="Tiranti, V., Hoertnagel, K., Carrozzo, R., Galimberti, C., Munaro, M., Grantiero, M., Zelante, L., Gasparini, P., Marzella, R., Rocchi, M., Bayona-Bafaluy, M. P., Enriquez, J.-A., Uziel, G., Bertini, E., Dionisi-Vici, C., Franco, B., Meitinger, T., Zeviani, M. <strong>Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.</strong> Am. J. Hum. Genet. 63: 1609-1621, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837813</a>] [<a href="https://doi.org/10.1086/302150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9837813">Tiranti et al. (1998)</a> found homozygosity for a 751C-T transition in exon 7 of the SURF1 gene, resulting in a change from gln to stop at codon 251. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9837813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Tiranti, V., Lamantea, E., Uziel, G., Zeviani, M., Gasparini, P., Marzella, R., Rocchi, M., Fried, M. <strong>Leigh syndrome transmitted by uniparental disomy of chromosome 9.</strong> J. Med. Genet. 36: 927-928, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10636738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10636738</a>]" pmid="10636738">Tiranti et al. (1999)</a> reported monozygotic twin females with Leigh syndrome as a result of inheritance of this mutation through uniparental disomy of maternal chromosome 9. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10636738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000622343 OR RCV002248820 OR RCV003155251" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000622343, RCV002248820, RCV003155251" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000622343...</a>
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<p>In their family C with mitochondrial complex IV deficiency (MC4DN1; <a href="/entry/220110">220110</a>) manifest as Leigh syndrome (see <a href="/entry/256000">256000</a>), <a href="#17" class="mim-tip-reference" title="Tiranti, V., Hoertnagel, K., Carrozzo, R., Galimberti, C., Munaro, M., Grantiero, M., Zelante, L., Gasparini, P., Marzella, R., Rocchi, M., Bayona-Bafaluy, M. P., Enriquez, J.-A., Uziel, G., Bertini, E., Dionisi-Vici, C., Franco, B., Meitinger, T., Zeviani, M. <strong>Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.</strong> Am. J. Hum. Genet. 63: 1609-1621, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837813</a>] [<a href="https://doi.org/10.1086/302150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9837813">Tiranti et al. (1998)</a> found homozygosity for a frameshift due to insertion of a T after nucleotide 868 in exon 9 of the SURF1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9837813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs781787822 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs781787822;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs781787822?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs781787822" 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=rs781787822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In their family B with mitochondrial complex IV deficiency nuclear type 1 (MC4DN1; <a href="/entry/220110">220110</a>) manifest as Leigh syndrome (see <a href="/entry/256000">256000</a>), <a href="#17" class="mim-tip-reference" title="Tiranti, V., Hoertnagel, K., Carrozzo, R., Galimberti, C., Munaro, M., Grantiero, M., Zelante, L., Gasparini, P., Marzella, R., Rocchi, M., Bayona-Bafaluy, M. P., Enriquez, J.-A., Uziel, G., Bertini, E., Dionisi-Vici, C., Franco, B., Meitinger, T., Zeviani, M. <strong>Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.</strong> Am. J. Hum. Genet. 63: 1609-1621, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837813</a>] [<a href="https://doi.org/10.1086/302150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9837813">Tiranti et al. (1998)</a> found that COX-negative Leigh syndrome was associated with compound heterozygosity for a splice mutation and a frameshift deletion: 516+2T-G in exon 5 and deletion of AG after nucleotide 550 in exon 60 (<a href="#0009">185620.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9837813" 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>.0009 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</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">rs1588689993 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1588689993;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=rs1588689993" 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=rs1588689993" 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=RCV000013602" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013602" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013602</a>
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<p>For discussion of the deletion of AG after nucleotide 550 in exon 60 of the SURF1 gene that was found in compound heterozygous state in a family (family B) with mitochondrial complex IV deficiency nuclear type 1 (MC4DN1; <a href="/entry/220110">220110</a>) by <a href="#17" class="mim-tip-reference" title="Tiranti, V., Hoertnagel, K., Carrozzo, R., Galimberti, C., Munaro, M., Grantiero, M., Zelante, L., Gasparini, P., Marzella, R., Rocchi, M., Bayona-Bafaluy, M. P., Enriquez, J.-A., Uziel, G., Bertini, E., Dionisi-Vici, C., Franco, B., Meitinger, T., Zeviani, M. <strong>Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.</strong> Am. J. Hum. Genet. 63: 1609-1621, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837813</a>] [<a href="https://doi.org/10.1086/302150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9837813">Tiranti et al. (1998)</a>, see <a href="#0008">185620.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9837813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</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">rs121918658 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918658;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=rs121918658" 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=rs121918658" 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=RCV000013603 OR RCV004799742" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013603, RCV004799742" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013603...</a>
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<p>In a Japanese patient with mitochondrial complex IV deficiency (MC4DN1; <a href="/entry/220110">220110</a>) manifest as Leigh syndrome, <a href="#15" class="mim-tip-reference" title="Teraoka, M., Yokoyama, Y., Ninomiya, S., Inoue, C., Yamashita, S., Seino, Y. <strong>Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.</strong> Hum. Genet. 105: 560-563, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10647889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10647889</a>] [<a href="https://doi.org/10.1007/s004399900191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10647889">Teraoka et al. (1999)</a> found compound heterozygosity for mutations in the SURF1 gene: a T-to-G transversion at nucleotide 820, resulting in a tyr274-to-asp substitution, and a 2-bp deletion at nucleotide 790 (<a href="#0011">185620.0011</a>). The patient was the offspring of nonconsanguineous parents. From the age of 10 months, the patient showed neurologic signs and symptoms, starting with impairment of movement. At the age of 14 months, he could no longer crawl. At the age of 17 months, his height and weight were far below normal. At the age of 18 months, tendon reflexes were hypoactive and intentional tremor of the limbs developed. There were ocular motor abnormalities, including slow saccades and bilateral internal strabismus. Respiratory failure gradually developed, necessitating intermittent assisted ventilation. Magnetic resonance imaging showed bilateral, symmetric signal increases in basal ganglia, cerebellum dentate nucleus, and around the aqueduct of the midbrain. Cerebrospinal fluid lactate and pyruvic acid concentrations were elevated. However, blood lactate and pyruvic acid concentrations were not elevated. On muscle biopsy, no mitochondrial alterations were found, and none of the 3 mitochondrial DNA mutations associated with Leigh syndrome was detected. The enzyme activity of COX was diffusely and severely decreased in muscle, and no COX activity was demonstrable in blood vessels, peripheral nerves, and fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10647889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs782490558 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs782490558;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs782490558?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs782490558" 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=rs782490558" 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=RCV000013605 OR RCV000198901 OR RCV000534608 OR RCV001813769 OR RCV002517264" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013605, RCV000198901, RCV000534608, RCV001813769, RCV002517264" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013605...</a>
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<p>For discussion of the 2-bp deletion at nucleotide 790 (790delAG) in the SURF1 gene that was found in compound heterozygous state in a Japanese patient with mitochondrial complex IV deficiency (MC4DN1; <a href="/entry/220110">220110</a>) by <a href="#15" class="mim-tip-reference" title="Teraoka, M., Yokoyama, Y., Ninomiya, S., Inoue, C., Yamashita, S., Seino, Y. <strong>Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.</strong> Hum. Genet. 105: 560-563, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10647889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10647889</a>] [<a href="https://doi.org/10.1007/s004399900191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10647889">Teraoka et al. (1999)</a>, see <a href="#0010">185620.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10647889" 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="#12" class="mim-tip-reference" title="Rahman, S., Brown, R. M., Chong, W. K., Wilson, C. J., Brown, G. K. <strong>A SURF1 gene mutation presenting as isolated leukodystrophy.</strong> Ann. Neurol. 49: 797-800, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11409433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11409433</a>] [<a href="https://doi.org/10.1002/ana.1060" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11409433">Rahman et al. (2001)</a> described a 2-year-old girl, born of healthy, consanguineous Bengali parents, who presented with failure to thrive, global neurodevelopmental regression, and lactic acidosis. MRI of the brain showed leukodystrophy with involvement of the corticospinal tracts. There were no basal ganglia necrotic lesions characteristic of Leigh syndrome. Respiratory chain enzyme assays on biopsied muscle revealed a severe isolated deficiency of COX (MC4DN1; <a href="/entry/220110">220110</a>). Sequence analysis of the SURF1 gene showed homozygosity for a 2-bp deletion at nucleotides 790-791. The patient's parents were heterozygotes. The authors suggested assaying respiratory chain enzymes in patients with leukodystrophy and lactic acidosis and sequencing SURF1 in patients with isolated COX deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11409433" 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>.0012 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000013606 OR RCV001851829" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013606, RCV001851829" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013606...</a>
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<p>In a patient with mitochondrial complex IV deficiency nuclear type 1 (MC4DN1; <a href="/entry/220110">220110</a>), <a href="#11" class="mim-tip-reference" title="Poyau, A., Buchet, K., Bouzidi, M. F., Zabot, M.-T., Echenne, B., Yao, J., Shoubridge, E. A., Godinot, C. <strong>Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.</strong> Hum. Genet. 106: 194-205, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10746561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10746561</a>] [<a href="https://doi.org/10.1007/s004390051028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10746561">Poyau et al. (2000)</a> identified a 385G-A transition in the SURF1 gene predicted to cause a gly124-to-glu (G124E) amino acid change. The parents were unrelated. The patient showed normal early motor and intellectual milestones but developed a progressive neurologic disease with motor and intellectual regression leading to a fatal encephalopathy. The patient was a compound heterozygote; the other allele carried a 2-bp insertion/10-bp deletion (<a href="#0003">185620.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10746561" 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>.0013 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</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">rs2119081408 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2119081408;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=rs2119081408" 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=rs2119081408" 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 10-year-old boy with an unusually mild clinical course of mitochondrial complex IV deficiency nuclear type 1 (MC4DN1; <a href="/entry/220110">220110</a>) manifest as Leigh syndrome, <a href="#13" class="mim-tip-reference" title="Salviati, L., Freehauf, C., Sacconi, S., DiMauro, S., Thoma, J., Tsai, A. C.-H. <strong>Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh syndrome.</strong> Am. J. Med. Genet. 128A: 195-198, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15214016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15214016</a>] [<a href="https://doi.org/10.1002/ajmg.a.30073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15214016">Salviati et al. (2004)</a> identified compound heterozygosity for mutations in the SURF1 gene. A 4-bp insertion (CCCT) at nucleotide 572 of exon 6, which was associated with a common polymorphism (573C-G) on the same allele, caused a predicted premature termination signal 7 codons downstream. The other mutation was a 10-bp deletion/2-bp insertion in exon 4 (<a href="#0003">185620.0003</a>). His mother harbored the exon 4 mutation and his father carried the exon 6 mutation. At age 39 months, the patient had no MRI lesions; at 8 years of age, MRI showed only brainstem and cerebellar involvement without lesions in the basal ganglia or subthalamic nuclei. <a href="#13" class="mim-tip-reference" title="Salviati, L., Freehauf, C., Sacconi, S., DiMauro, S., Thoma, J., Tsai, A. C.-H. <strong>Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh syndrome.</strong> Am. J. Med. Genet. 128A: 195-198, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15214016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15214016</a>] [<a href="https://doi.org/10.1002/ajmg.a.30073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15214016">Salviati et al. (2004)</a> concluded that the spectrum of MRI findings in Leigh syndrome is variable and that SURF1 mutations should be considered in patients with encephalopathy and COX deficiency even when early MRI findings are negative. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15214016" 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>.0014 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000013608 OR RCV000197896 OR RCV000331329 OR RCV000500935 OR RCV000624533 OR RCV000626844 OR RCV002251902 OR RCV004554601 OR RCV005049334" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013608, RCV000197896, RCV000331329, RCV000500935, RCV000624533, RCV000626844, RCV002251902, RCV004554601, RCV005049334" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013608...</a>
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<p>In 9 of 40 unrelated patients with mitochondrial complex IV deficiency (MC4DN1; <a href="/entry/220110">220110</a>) manifest as Leigh syndrome, <a href="#10" class="mim-tip-reference" title="Pequignot, M. O., Dey, R., Zeviani, M., Tiranti, V., Godinot, C., Poyau, A., Sue, C., Di Mauro, S., Abitbol, M., Marsac, C. <strong>Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency.</strong> Hum. Mutat. 17: 374-381, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11317352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11317352</a>] [<a href="https://doi.org/10.1002/humu.1112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11317352">Pequignot et al. (2001)</a> identified a 2-bp deletion in the SURF1 gene (845delCT). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11317352" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bohm, M., Pronicka, E., Karczmarewicz, E., Pronicki, M., Piekutowska-Abramczuk, D., Sykut-Cegielska, J., Mierzewska, H., Hansikova, H., Vesela, K., Tesarova, M., Houstkova, H., Houstek, J., Zeman, J. <strong>Retrospective, multicentric study of 180 children with cytochrome c oxidase deficiency.</strong> Pediat. Res. 59: 21-26, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16326995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16326995</a>] [<a href="https://doi.org/10.1203/01.pdr.0000190572.68191.13" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16326995">Bohm et al. (2006)</a> found that the 845delCT mutation was the most common SURF1 mutation in 47 patients from 35 families with Leigh syndrome and cytochrome c oxidase deficiency (see <a href="/entry/220110">220110</a>) due to SURF1 mutations. The deletion was present in 89% of independent alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16326995" 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>.0015 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</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">rs398122806 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122806;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=rs398122806" 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=rs398122806" 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=RCV000022780" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022780" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022780</a>
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<p><a href="#9" class="mim-tip-reference" title="Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., Zecha, A., Mohseni, M., and 33 others. <strong>Deep sequencing reveals 50 novel genes for recessive cognitive disorders.</strong> Nature 478: 57-63, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21937992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21937992</a>] [<a href="https://doi.org/10.1038/nature10423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21937992">Najmabadi et al. (2011)</a> identified homozygosity for an A-to-G transition in the SURF1 gene at genomic coordinate chr9:135209194 (NCBI36), resulting in a trp227-to-arg (W227R) substitution, in 2 sibs (family G008) with mildly delayed intellectual development, ataxia, short stature, and facial dysmorphism (MD4DN1; <a href="/entry/220110">220110</a>), diagnosed as a mild form of Leigh syndrome. The first-cousin parents were heterozygous for the mutation and had 2 healthy children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21937992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs782726390 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs782726390;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs782726390?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs782726390" 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=rs782726390" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 adult sibs, born of consanguineous Algerian parents, with autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K (CMT4K; <a href="/entry/616684">616684</a>), <a href="#6" class="mim-tip-reference" title="Echaniz-Laguna, A., Ghezzi, D., Chassagne, M., Mayencon, M., Padet, S., Melchionda, L., Rouvet, I., Lannes, B., Bozon, D., Latour, P., Zeviani, M., Mousson de Camaret, B. <strong>SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.</strong> Neurology 81: 1523-1530, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24027061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24027061</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24027061[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/10.1212/WNL.0b013e3182a4a518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24027061">Echaniz-Laguna et al. (2013)</a> identified a homozygous A-to-G transition in intron 2 of the SURF1 gene (c.107-2A-G, NM_003172.3), predicted to result in a splice site alteration. Patient cells showed several aberrant transcripts resulting in premature termination that would be degraded by nonsense-mediated mRNA decay. Western blot analysis of mitochondria-enriched preparations of patient fibroblasts showed virtual absence of the SURF1 protein. Fully assembled COX was also markedly reduced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24027061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs782190413 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs782190413;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs782190413?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs782190413" 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=rs782190413" 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=RCV000199387 OR RCV000202523 OR RCV000631410 OR RCV002492907 OR RCV003314575" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000199387, RCV000202523, RCV000631410, RCV002492907, RCV003314575" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000199387...</a>
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<p>In a French patient with autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K (CMT4K; <a href="/entry/616684">616684</a>), <a href="#6" class="mim-tip-reference" title="Echaniz-Laguna, A., Ghezzi, D., Chassagne, M., Mayencon, M., Padet, S., Melchionda, L., Rouvet, I., Lannes, B., Bozon, D., Latour, P., Zeviani, M., Mousson de Camaret, B. <strong>SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.</strong> Neurology 81: 1523-1530, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24027061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24027061</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24027061[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/10.1212/WNL.0b013e3182a4a518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24027061">Echaniz-Laguna et al. (2013)</a> identified compound heterozygous mutations in the SURF1 gene: a c.574C-T transition (c.574C-T, NM_003172.3), resulting in an arg192-to-trp (R192W) substitution at a highly conserved residue, and a 2-bp deletion (c.799_800del; <a href="#0018">185620.0018</a>), resulting in a frameshift and premature termination (Leu267GlufsTer24). Each unaffected parent was heterozygous for one of the mutations. Functional studies and studies of patient cells were not performed. The patient was 1 of 40 unrelated patients with CMT4 who underwent analysis of the SURF1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24027061" 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>.0018 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K</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">rs864309500 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864309500;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=rs864309500" 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=rs864309500" 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=RCV000202439 OR RCV001804940 OR RCV003389322" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000202439, RCV001804940, RCV003389322" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000202439...</a>
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<p>For discussion of the 2-bp deletion (c.799_800del, NM_003172.3) in the SURF1 gene, resulting in a frameshift and premature termination (Leu267GlufsTer24), that was identified in a patient with autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K (CMT4K; <a href="/entry/616684">616684</a>) by <a href="#6" class="mim-tip-reference" title="Echaniz-Laguna, A., Ghezzi, D., Chassagne, M., Mayencon, M., Padet, S., Melchionda, L., Rouvet, I., Lannes, B., Bozon, D., Latour, P., Zeviani, M., Mousson de Camaret, B. <strong>SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.</strong> Neurology 81: 1523-1530, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24027061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24027061</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24027061[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/10.1212/WNL.0b013e3182a4a518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24027061">Echaniz-Laguna et al. (2013)</a>, see <a href="#0017">185620.0017</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24027061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1203/01.pdr.0000190572.68191.13" target="_blank">Full Text</a>]
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Echaniz-Laguna, A., Ghezzi, D., Chassagne, M., Mayencon, M., Padet, S., Melchionda, L., Rouvet, I., Lannes, B., Bozon, D., Latour, P., Zeviani, M., Mousson de Camaret, B.
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<strong>SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.</strong>
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Neurology 81: 1523-1530, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24027061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24027061</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24027061[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=24027061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature10423" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11317352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11317352</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11317352" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.1112" target="_blank">Full Text</a>]
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Poyau, A., Buchet, K., Bouzidi, M. F., Zabot, M.-T., Echenne, B., Yao, J., Shoubridge, E. A., Godinot, C.
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[<a href="https://doi.org/10.1007/s004390051028" target="_blank">Full Text</a>]
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Rahman, S., Brown, R. M., Chong, W. K., Wilson, C. J., Brown, G. K.
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<strong>A SURF1 gene mutation presenting as isolated leukodystrophy.</strong>
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[<a href="https://doi.org/10.1002/ana.1060" target="_blank">Full Text</a>]
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Salviati, L., Freehauf, C., Sacconi, S., DiMauro, S., Thoma, J., Tsai, A. C.-H.
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<strong>Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15214016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15214016</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15214016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30073" target="_blank">Full Text</a>]
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Stubbs, L., Huxley, C., Hogan, B., Evans, T., Fried, M., Duboule, D., Lehrach, H.
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<strong>The HOX-5 and surfeit gene clusters are linked in the proximal portion of mouse chromosome 2.</strong>
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Genomics 6: 645-650, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1971250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1971250</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1971250" 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/10.1016/0888-7543(90)90499-k" target="_blank">Full Text</a>]
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Teraoka, M., Yokoyama, Y., Ninomiya, S., Inoue, C., Yamashita, S., Seino, Y.
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<strong>Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.</strong>
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Hum. Genet. 105: 560-563, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10647889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10647889</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10647889" 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/s004399900191" target="_blank">Full Text</a>]
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Tiranti, V., Galimberti, C., Nijtmans, L., Bovolenta, S., Perini, M. P., Zeviani, M.
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<strong>Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.</strong>
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Hum. Molec. Genet. 8: 2533-2540, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10556302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10556302</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10556302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/8.13.2533" target="_blank">Full Text</a>]
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Tiranti, V., Hoertnagel, K., Carrozzo, R., Galimberti, C., Munaro, M., Grantiero, M., Zelante, L., Gasparini, P., Marzella, R., Rocchi, M., Bayona-Bafaluy, M. P., Enriquez, J.-A., Uziel, G., Bertini, E., Dionisi-Vici, C., Franco, B., Meitinger, T., Zeviani, M.
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<strong>Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.</strong>
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Am. J. Hum. Genet. 63: 1609-1621, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837813</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9837813" 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/10.1086/302150" target="_blank">Full Text</a>]
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Tiranti, V., Jaksch, M., Hofmann, S., Galimberti, C., Hoertnagel, K., Lulli, L., Freisinger, P., Bindoff, L., Gerbitz, K. D., Comi, G.-P., Uziel, G., Zeviani, M., Meitinger, T.
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<strong>Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.</strong>
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Ann. Neurol. 46: 161-166, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10443880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10443880</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10443880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1531-8249(199908)46:2<161::aid-ana4>3.0.co;2-o" target="_blank">Full Text</a>]
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Tiranti, V., Lamantea, E., Uziel, G., Zeviani, M., Gasparini, P., Marzella, R., Rocchi, M., Fried, M.
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<strong>Leigh syndrome transmitted by uniparental disomy of chromosome 9.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10636738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10636738</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10636738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Williams, T., Yon, J., Huxley, C., Fried, M.
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<strong>The mouse surfeit locus contains a very tight cluster of four 'housekeeping' genes which is conserved through evolution.</strong>
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Proc. Nat. Acad. Sci. 85: 3527-3530, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2453062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2453062</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2453062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.85.10.3527" target="_blank">Full Text</a>]
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Yon, J., Jones, T., Garson, K., Sheer, D., Fried, M.
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<strong>The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-ABL and CAN proto-oncogenes at chromosome band 9q34.1.</strong>
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Hum. Molec. Genet. 2: 237-240, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8499913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8499913</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8499913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/2.3.237" target="_blank">Full Text</a>]
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Yon, J., Palmer, R. W., Sheer, D., Fried, M.
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<strong>Localization of the surfeit gene cluster containing the ribosomal protein gene L7a to chromosome bands 9q33-34.</strong>
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Ann. Hum. Genet. 53: 149-155, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2596824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2596824</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2596824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1989.tb01779.x" target="_blank">Full Text</a>]
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Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., Brown, G. K., Brown, R. M., Shoubridge, E. A.
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<strong>SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.</strong>
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Nature Genet. 20: 337-343, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843204</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/3804" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 10/23/2020
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Cassandra L. Kniffin - updated : 12/10/2015<br>Ada Hamosh - updated : 1/6/2012<br>Patricia A. Hartz - updated : 6/25/2010<br>Patricia A. Hartz - updated : 11/10/2008<br>Carol A. Bocchini - updated : 11/3/2008<br>Cassandra L. Kniffin - updated : 5/30/2007<br>George E. Tiller - updated : 1/4/2005<br>Marla J. F. O'Neill - updated : 7/20/2004<br>Cassandra L. Kniffin - updated : 2/9/2004<br>Cassandra L. Kniffin - updated : 7/9/2003<br>Deborah L. Stone - updated : 11/24/2001<br>Victor A. McKusick - updated : 6/25/2001<br>Michael J. Wright - updated : 5/5/2000<br>Victor A. McKusick - updated : 3/8/2000<br>Victor A. McKusick - updated : 1/13/2000<br>Victor A. McKusick - updated : 1/11/1999<br>Victor A. McKusick - updated : 11/24/1998<br>Moyra Smith - updated : 1/2/1997
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Victor A. McKusick : 8/29/1989
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carol : 05/19/2022<br>carol : 07/16/2021<br>carol : 02/09/2021<br>carol : 10/24/2020<br>carol : 10/23/2020<br>carol : 12/16/2015<br>carol : 12/15/2015<br>ckniffin : 12/10/2015<br>alopez : 3/12/2015<br>carol : 1/9/2012<br>terry : 1/6/2012<br>carol : 11/22/2011<br>mgross : 7/7/2010<br>terry : 6/25/2010<br>alopez : 8/25/2009<br>mgross : 12/5/2008<br>mgross : 12/5/2008<br>terry : 11/10/2008<br>carol : 11/3/2008<br>wwang : 10/30/2008<br>carol : 8/20/2008<br>wwang : 6/6/2007<br>ckniffin : 5/30/2007<br>ckniffin : 5/30/2007<br>terry : 2/22/2005<br>alopez : 1/4/2005<br>carol : 8/26/2004<br>carol : 7/22/2004<br>terry : 7/20/2004<br>ckniffin : 2/9/2004<br>carol : 7/10/2003<br>ckniffin : 7/10/2003<br>ckniffin : 7/9/2003<br>carol : 11/24/2001<br>mcapotos : 7/6/2001<br>mcapotos : 6/29/2001<br>terry : 6/25/2001<br>alopez : 5/5/2000<br>mcapotos : 4/6/2000<br>mcapotos : 4/3/2000<br>terry : 3/8/2000<br>mgross : 2/21/2000<br>terry : 1/13/2000<br>psherman : 9/14/1999<br>carol : 1/20/1999<br>carol : 1/19/1999<br>carol : 1/15/1999<br>terry : 1/11/1999<br>alopez : 12/11/1998<br>alopez : 12/8/1998<br>alopez : 11/30/1998<br>terry : 11/24/1998<br>terry : 11/24/1998<br>dkim : 7/16/1998<br>terry : 7/7/1997<br>mark : 1/2/1997<br>carol : 12/23/1993<br>carol : 4/26/1993<br>carol : 9/10/1992<br>carol : 8/18/1992<br>supermim : 3/16/1992<br>carol : 6/11/1990
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 185620
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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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SURFEIT 1; SURF1
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</h3>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SURF1</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 765047006;
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</span>
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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: 9q34.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:133,351,758-133,356,487 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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<td rowspan="2">
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<span class="mim-font">
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9q34.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Charcot-Marie-Tooth disease, type 4K
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</td>
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<td>
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<span class="mim-font">
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616684
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</span>
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<td>
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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<tr>
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<td>
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<span class="mim-font">
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Mitochondrial complex IV deficiency, nuclear type 1
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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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220110
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The SURF1 gene encodes an assembly factor of mitochondrial complex IV (COX), the terminal component of the mitochondrial respiratory chain (summary by Echaniz-Laguna et al., 2013). </p>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using mouse Surf1 cDNA as probe, Lennard et al. (1994) cloned human SURF1 from placenta and HeLa cell cDNA libraries. The deduced 300-amino acid protein shares 77% identity with mouse Surf1. Although mouse Surf1 is expressed as 3 alternatively spliced transcripts, Lennard et al. (1994) found evidence for only 1 human SURF1 cDNA by PCR analysis. </p><p>Zhu et al. (1998) reported that the SURF1 gene encodes a deduced 300-amino acid protein that shares 25.6% sequence homology with the yeast SHY1 homolog. Both proteins have a characteristic mitochondrial targeting sequence in the N terminus and 2 putative conserved transmembrane domains. Expression of human SURF1 cDNA with a C-terminal tag in COS-7 cells colocalized SURF1 with a mitochondrial marker. </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>Lennard et al. (1994) found that the major start sites of the SURF1 and SURF2 (185630) genes are separated by 97 bp, although both genes have multiple transcription start sites. The intergenic region is expected to have bidirectional promoter activity, as is found in mouse. This region lacks a TATA box, but is GC-rich. DNase footprint analysis showed 4 regions that interacted with HeLa cell nuclear factor complexes. </p><p>Duhig et al. (1998) stated that the 5-prime end of each of the surfeit genes, including SURF1, is contained within a CpG island. </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>The mouse surfeit gene cluster contains 6 closely spaced housekeeping genes, designated Surf1 to Surf6, unrelated by sequence homology (Williams et al., 1988; Colombo et al., 1992). No more than 73 basepairs separate any 2 of the 4 well-characterized surfeit cluster genes. Using an interspecies backcross, Stubbs et al. (1990) mapped the surfeit and Hox-5 gene clusters to the proximal portion of mouse chromosome 2. Surf is close to the protooncogene Abl, near the centromere of mouse chromosome 2. Williams et al. (1988) found that juxtaposition of 4 of the genes was conserved in the human surfeit gene cluster. </p><p>By methods of nucleic acid hybridization using somatic cell hybrids and by in situ hybridization, Yon et al. (1989) localized the human surfeit gene cluster to chromosome bands 9q33-q34. Yon et al. (1993) confirmed the localization of the surfeit cluster in 9q34 by fluorescence in situ hybridization and showed that the organization and juxtaposition of the human surfeit locus genes are the same as in the mouse. Furthermore, analysis by FISH of metaphase spreads from human chronic myeloid leukemic cells containing the t(9;22)(q34;q11) translocation involving the ABL gene (189980) at 9q34.1 and acute nonlymphocytic leukemic cells containing the t(6;9)(p23;q34) translocation involving the CAN gene (114350) at 9q34.1 demonstrated that the surfeit cluster is telomeric to these 2 genes. Yon et al. (1993) commented that tuberous sclerosis-1 (191100) and nail-patella syndrome (NPS1; 161200) are distal to ABL. </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>Evolution</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>Colombo et al. (1992) found that tight clustering and juxtaposition of at least 5 of the surfeit genes, numbered 1 through 5, and their associated CpG-rich islands are conserved over the 600 million years of divergent evolution that separates birds and mammals. They suggested that surfeit represents a different form of gene cluster in which gene organization may play both a positive and a negative regulatory role in gene expression, possibly via cis interactions between the closely spaced genes. </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>Zhu et al. (1998) presented data indicating that SURF1 encodes a putative assembly or maintenance factor which, in humans, appears to be specific for the cytochrome c oxidase (COX) complex. See MOLECULAR GENETICS section. </p><p>Using antibodies against a recombinant, labeled SURF1 protein in COS-7 cells, Tiranti et al. (1999) demonstrated that the protein is imported into the mitochondria as a larger 35-kD precursor which is then processed into the mature 30-kD product by the cleaving off of a 40-amino acid N-terminal leader polypeptide. Western blot analysis showed that SURF1 is localized in and tightly bound to the inner mitochondrial membrane. Cell lines with loss-of-function SURF1 mutations had no detectable protein and no SURF1 transcripts, suggesting severe mRNA instability. Two-dimensional gel electrophoresis experiments on SURF1 mutant and control cell lines showed that COX assembly in SURF1 mutants was blocked at an early step, most likely before the incorporation of subunit II in the nascent intermediates composed of subunit I alone or subunit I plus subunit IV. </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>Mitochondrial Complex IV Deficiency, Nuclear Type 1</em></strong></p><p>
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Using microcell-mediated chromosome transfer, Zhu et al. (1998) mapped the gene defect in COX deficiency to 9q34 by complementation of the respiratory chain deficiency in patient fibroblasts, and SURF1 became a positional candidate gene. Analysis of SURF1 revealed several homozygous or compound heterozygous mutations (see, e.g., 185620.0001), all of which predicted a truncated protein. The findings suggested a role for SURF1 in the biogenesis of the COX complex and defined a new class of gene defects causing human neurodegenerative disease. Cytochrome c oxidase (COX) deficiency caused by mutation in the SURF1 gene (MC4DN1; 220110) is often manifest as Leigh syndrome (LS; see 256000), also known as infantile subacute necrotizing encephalopathy (SNE), a severe neurologic disorder characterized by bilaterally symmetric necrotic lesions in subcortical brain regions. </p><p>In the mapping done by microcell-mediated chromosome transfer, Zhu et al. (1998) transferred all 22 autosomes and the X chromosome, one at a time, into a patient fibroblast line, to demonstrate correction of the metabolic defect by chromosome 9. To refine the map position of the defective gene on chromosome 9, Zhu et al. (1998) introduced deleted versions of chromosome 9. The localization was narrowed further by excluding regions of 9q by use of DNA markers in 2 small families. </p><p>Zhu et al. (1998) showed that COX deficiency could be 'rescued' by SURF1 cDNA in patient fibroblasts. They suggested that the functional complementation approach could serve as a paradigm to map and clone other nuclear genes associated with respiratory chain disorders, such as mtDNA depletion syndrome (see 251880) or complex I-deficient Leigh syndrome (see 252010). </p><p>Tiranti et al. (1998) used complementation assays based on the fusion of cytochrome c oxidase-negative Leigh disease cell lines with several rodent/human hybrid cells that had been made rho(0), i.e., deprived of their own mtDNA by prolonged exposure to high doses of ethidium bromide, to identify a COX-negative Leigh disease locus. Complementation of the COX defect was obtained only with rodent/human rho(0) hybrids that contained human chromosome 9. Linkage analysis restricted the disease locus to the subtelomeric region of 9q, within the 7-cM interval between markers D9S1847 and D9S1826. They sought mutations in candidate genes in the region, including SURF1, the yeast homolog (SHY1) of which encodes a mitochondrial protein necessary for the maintenance of COX activity and respiration. Tiranti et al. (1998) found that SURF1 was mutated in the probands of 9 COX-negative Leigh disease families; in the probands of 6 families, loss-of-function mutations were found on both alleles. </p><p>Poyau et al. (2000) studied fibroblasts from 3 patients suffering from Leigh syndrome associated with cytochrome c oxidase deficiency. Their mitochondrial DNA was functional and all nuclear COX subunits had normal sequences. The expression of transcripts encoding mitochondrial and nuclear COX subunits was normal or slightly increased. Similarly, the OXA1L (601066) transcript coding for a protein involved in COX assembly was increased. However, several COX-protein subunits were severely depressed, indicating deficient COX assembly. Sequence analysis of SURF1 in these 3 patients revealed 7 heterozygous mutations, 6 of which were new: an insertion, a nonsense mutation, a splicing mutation at intron 7, and 3 missense mutations. The gly124-to-glu mutation (185620.0012) changed a gly that is strictly conserved in Surf1 homologs of 12 species. </p><p>Pequignot et al. (2001) stated that 30 different mutations in SURF1 had been reported in 40 unrelated patients. Twenty mutations had been described only once. The most frequent mutation involved a deletion of 10 bp and an insertion of 2 bp (AT) (185620.0003); this mutation was found in 12 of 40 patients, and was homozygous in 3 of them. The second most frequent mutation was a deletion of 2 bp, CT at position 845-846 (185620.0014); this mutation was found in 9 of 40 patients. </p><p>In 18 of 24 (75%) patients with COX-deficient Leigh syndrome, Tiranti et al. (1999) identified 13 different mutations in the SURF1 gene. All of the mutations, including frameshift, nonsense, and splice site mutations, were predicted to result in loss of protein function. No missense mutations were identified. In addition, no SURF1 mutations were found in 6 patients with COX deficiency classified as 'Leigh-like' or in 16 patients with COX deficiency classified as 'non-LS.' Tiranti et al. (1999) concluded that SURF1 mutations are specifically associated with LS and that SURF1 is the gene responsible for most of the COX-deficient cases of LS. </p><p>In 3 cases of COX deficiency manifest as Leigh syndrome, Moslemi et al. (2003) identified 4 pathogenic mutations in the SURF1 gene, including 2 novel mutations. In all cases, the patients' fibroblasts showed reduced COX activity, which was restored after transfection with normal SURF1 cDNA. </p><p>Najmabadi et al. (2011) performed homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian and less than 10% Turkish or Arab) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability. In family G008, they identified homozygosity for a missense mutation in the SURF1 gene (185620.0015) in 2 sibs with mild intellectual disability, ataxia, short stature, and facial dysmorphism, diagnosed as a mild form of Leigh syndrome. The parents were first cousins and had 2 healthy children. </p><p><strong><em>Charcot-Marie-Tooth Disease, Demyelinating, Type 4K</em></strong></p><p>
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In 3 patients from 2 unrelated families with autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K (CMT4K; 616684), Echaniz-Laguna et al. (2013) identified homozygous or compound heterozygous mutations in the SURF1 gene (185620.0016-185620.0018). Western blot analysis of mitochondria-enriched preparations of patient fibroblasts from 1 of the families showed virtual absence of the SURF1 protein. Fully assembled COX was also markedly reduced. In the whole cohort, SURF1 mutations were found in 2 (5%) of 41 families with autosomal recessive demyelinating CMT after exclusion of mutations in known CMT4-related genes. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Agostino et al. (2003) created a constitutive knockout mouse for Surf1 by replacing exons 5 to 7 of Surf1 with a neomycin-resistance (neo) cassette. Postimplantation embryonic lethality affected 90% of Surf1 -/- homozygotes; approximately 30% of liveborn animals died within the first postnatal month, and an additional 15% died within the first 6 months of life. Significant deficit in muscle strength and motor performance was observed, without obvious abnormalities in brain morphology or overt neurologic symptoms. A profound and isolated defect of COX activity in skeletal muscle and liver was detected, and reduced histochemical reaction to COX and mitochondrial proliferation in skeletal muscle was present. </p><p>Dell'Agnello et al. (2007) created Surf1 -/- mice by inserting a loxP sequence in exon 7, which resulted in a truncated Surf1 protein that was not expressed. These Surf1 -/- mice were born at the expected mendelian frequency, indicating that the lethality observed in the previous Surf1 -/- mouse model (Agostino et al., 2003) was not caused by ablation of Surf1 itself, but rather by the presence of the neo cassette or by the elimination of regulatory elements in the deleted region. The Surf1 -/- mice created by Dell'Agnello et al. (2007) showed no neurologic or extraneurologic defects, although they had a mild defect in COX assembly and activity. Surf1 -/- animals had a prolonged life span and resistance to the Ca(2+)-dependent excitotoxic activity of kainic acid compared with wildtype animals. Primary cultures of Surf1 -/- neurons showed resistance to glutamate toxicity, reduced glutamate-induced increase in Ca(2+) in both cytosolic and mitochondrial compartments, and reduced mitochondrial Ca(2+) uptake compared with controls. Dell'Agnello et al. (2007) concluded that the effects of Surf1 ablation on Ca(2+) homeostasis, and possibly on longevity, may be independent from those on COX assembly and mitochondrial bioenergetics. </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>18 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 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</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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SURF1, 765C-T
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<br />
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SNP: rs121918657,
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gnomAD: rs121918657,
|
|
|
|
|
|
ClinVar: RCV000013599, RCV000589222, RCV000599426, RCV003314553, RCV005042037
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mitochondrial complex IV deficiency nuclear type 1 (MC4DN1; 220110) manifest as Leigh syndrome (see 256000), Zhu et al. (1998) identified compound heterozygosity for a 765C-T nonsense mutation in exon 7 and a 337+2T-C mutation in the donor splice site of intron 4 (185620.0002) of the SURF1 gene. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
|
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</div>
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|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SURF1, IVS4DS, T-C, +2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1588691694,
|
|
|
|
|
|
|
|
ClinVar: RCV000013595
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 185620.0001 and Zhu et al. (1998). The donor splice site mutation led to deletion of exon 4; this appeared to result from the use of a cryptic donor sequence (GT) at the 5-prime end of exon 4, which caused the removal of exon and intron 4 when the wildtype donor consensus sequence in intron 4 was mutated. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
<div>
|
|
<br />
|
|
</div>
|
|
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|
</div>
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|
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|
|
<div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SURF1, 2-BP INS/10-BP DEL, NT326
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs863224228,
|
|
|
|
|
|
|
|
ClinVar: RCV000013596, RCV000197023, RCV000235063, RCV002478694, RCV004554746
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mitochondrial complex IV deficiency (MC4DN1; 220110) manifest as Leigh syndrome, Zhu et al. (1998) identified compound heterozygosity for an insertion/deletion mutation in exon 4 (326insATdelTCTGCCAGCC), which created a nonsense codon at the site of the mutation, and a 2-bp deletion in exon 9 which removed 1 of the 3 CT repeats between positions 855 and 860. The latter mutation was designated 855delCT (185620.0004). </p><p>Poyau et al. (2000) found the insertion/deletion mutation in compound heterozygosity with a gly124-to-glu mutation (185620.0012). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SURF1, 2-BP DEL, 855CT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs782316919,
|
|
|
|
|
|
gnomAD: rs782316919,
|
|
|
|
|
|
ClinVar: RCV000013608, RCV000197896, RCV000331329, RCV000500935, RCV000624533, RCV000626844, RCV002251902, RCV004554601, RCV005049334
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 185620.0003 and Zhu et al. (1998). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SURF1, 1-BP INS, 882T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs782061187,
|
|
|
|
|
|
gnomAD: rs782061187,
|
|
|
|
|
|
ClinVar: RCV000622343, RCV002248820, RCV003155251
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mitochondrial complex IV deficiency (MC4DN1; 220110) manifest as Leigh syndrome, Zhu et al. (1998) found homozygosity for insertion of a T into a string of Ts, creating a nonsense codon. The mutation was designated 882insT. This and 4 other mutations found by Zhu et al. (1998) in cases of Leigh syndrome predicted a truncated protein product. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SURF1, GLN251TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918657,
|
|
|
|
|
|
gnomAD: rs121918657,
|
|
|
|
|
|
ClinVar: RCV000013599, RCV000589222, RCV000599426, RCV003314553, RCV005042037
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In their family G with mitochondrial complex IV deficiency nuclear type 1 (MC4DN1; 220110) manifest as Leigh syndrome (see 256000), Tiranti et al. (1998) found homozygosity for a 751C-T transition in exon 7 of the SURF1 gene, resulting in a change from gln to stop at codon 251. </p><p>Tiranti et al. (1999) reported monozygotic twin females with Leigh syndrome as a result of inheritance of this mutation through uniparental disomy of maternal chromosome 9. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SURF1, 1-BP INS, 868T
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000622343, RCV002248820, RCV003155251
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In their family C with mitochondrial complex IV deficiency (MC4DN1; 220110) manifest as Leigh syndrome (see 256000), Tiranti et al. (1998) found homozygosity for a frameshift due to insertion of a T after nucleotide 868 in exon 9 of the SURF1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SURF1, IVS5DS, T-G, +2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs781787822,
|
|
|
|
|
|
gnomAD: rs781787822,
|
|
|
|
|
|
ClinVar: RCV000013601
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In their family B with mitochondrial complex IV deficiency nuclear type 1 (MC4DN1; 220110) manifest as Leigh syndrome (see 256000), Tiranti et al. (1998) found that COX-negative Leigh syndrome was associated with compound heterozygosity for a splice mutation and a frameshift deletion: 516+2T-G in exon 5 and deletion of AG after nucleotide 550 in exon 60 (185620.0009). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SURF1, 2-BP DEL, 550AG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1588689993,
|
|
|
|
|
|
|
|
ClinVar: RCV000013602
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the deletion of AG after nucleotide 550 in exon 60 of the SURF1 gene that was found in compound heterozygous state in a family (family B) with mitochondrial complex IV deficiency nuclear type 1 (MC4DN1; 220110) by Tiranti et al. (1998), see 185620.0008. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SURF1, TYR274ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918658,
|
|
|
|
|
|
|
|
ClinVar: RCV000013603, RCV004799742
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with mitochondrial complex IV deficiency (MC4DN1; 220110) manifest as Leigh syndrome, Teraoka et al. (1999) found compound heterozygosity for mutations in the SURF1 gene: a T-to-G transversion at nucleotide 820, resulting in a tyr274-to-asp substitution, and a 2-bp deletion at nucleotide 790 (185620.0011). The patient was the offspring of nonconsanguineous parents. From the age of 10 months, the patient showed neurologic signs and symptoms, starting with impairment of movement. At the age of 14 months, he could no longer crawl. At the age of 17 months, his height and weight were far below normal. At the age of 18 months, tendon reflexes were hypoactive and intentional tremor of the limbs developed. There were ocular motor abnormalities, including slow saccades and bilateral internal strabismus. Respiratory failure gradually developed, necessitating intermittent assisted ventilation. Magnetic resonance imaging showed bilateral, symmetric signal increases in basal ganglia, cerebellum dentate nucleus, and around the aqueduct of the midbrain. Cerebrospinal fluid lactate and pyruvic acid concentrations were elevated. However, blood lactate and pyruvic acid concentrations were not elevated. On muscle biopsy, no mitochondrial alterations were found, and none of the 3 mitochondrial DNA mutations associated with Leigh syndrome was detected. The enzyme activity of COX was diffusely and severely decreased in muscle, and no COX activity was demonstrable in blood vessels, peripheral nerves, and fibroblasts. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SURF1, 2-BP DEL, 790AG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs782490558,
|
|
|
|
|
|
gnomAD: rs782490558,
|
|
|
|
|
|
ClinVar: RCV000013605, RCV000198901, RCV000534608, RCV001813769, RCV002517264
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 2-bp deletion at nucleotide 790 (790delAG) in the SURF1 gene that was found in compound heterozygous state in a Japanese patient with mitochondrial complex IV deficiency (MC4DN1; 220110) by Teraoka et al. (1999), see 185620.0010. </p><p>Rahman et al. (2001) described a 2-year-old girl, born of healthy, consanguineous Bengali parents, who presented with failure to thrive, global neurodevelopmental regression, and lactic acidosis. MRI of the brain showed leukodystrophy with involvement of the corticospinal tracts. There were no basal ganglia necrotic lesions characteristic of Leigh syndrome. Respiratory chain enzyme assays on biopsied muscle revealed a severe isolated deficiency of COX (MC4DN1; 220110). Sequence analysis of the SURF1 gene showed homozygosity for a 2-bp deletion at nucleotides 790-791. The patient's parents were heterozygotes. The authors suggested assaying respiratory chain enzymes in patients with leukodystrophy and lactic acidosis and sequencing SURF1 in patients with isolated COX deficiency. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SURF1, GLY124GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28933402,
|
|
|
|
|
|
|
|
ClinVar: RCV000013606, RCV001851829
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mitochondrial complex IV deficiency nuclear type 1 (MC4DN1; 220110), Poyau et al. (2000) identified a 385G-A transition in the SURF1 gene predicted to cause a gly124-to-glu (G124E) amino acid change. The parents were unrelated. The patient showed normal early motor and intellectual milestones but developed a progressive neurologic disease with motor and intellectual regression leading to a fatal encephalopathy. The patient was a compound heterozygote; the other allele carried a 2-bp insertion/10-bp deletion (185620.0003). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SURF1, 4-BP INS, 572CCCT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2119081408,
|
|
|
|
|
|
|
|
ClinVar: RCV000013607
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 10-year-old boy with an unusually mild clinical course of mitochondrial complex IV deficiency nuclear type 1 (MC4DN1; 220110) manifest as Leigh syndrome, Salviati et al. (2004) identified compound heterozygosity for mutations in the SURF1 gene. A 4-bp insertion (CCCT) at nucleotide 572 of exon 6, which was associated with a common polymorphism (573C-G) on the same allele, caused a predicted premature termination signal 7 codons downstream. The other mutation was a 10-bp deletion/2-bp insertion in exon 4 (185620.0003). His mother harbored the exon 4 mutation and his father carried the exon 6 mutation. At age 39 months, the patient had no MRI lesions; at 8 years of age, MRI showed only brainstem and cerebellar involvement without lesions in the basal ganglia or subthalamic nuclei. Salviati et al. (2004) concluded that the spectrum of MRI findings in Leigh syndrome is variable and that SURF1 mutations should be considered in patients with encephalopathy and COX deficiency even when early MRI findings are negative. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SURF1, 2-BP DEL, 845CT
|
|
|
|
|
|
<br />
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ClinVar: RCV000013608, RCV000197896, RCV000331329, RCV000500935, RCV000624533, RCV000626844, RCV002251902, RCV004554601, RCV005049334
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In 9 of 40 unrelated patients with mitochondrial complex IV deficiency (MC4DN1; 220110) manifest as Leigh syndrome, Pequignot et al. (2001) identified a 2-bp deletion in the SURF1 gene (845delCT). </p><p>Bohm et al. (2006) found that the 845delCT mutation was the most common SURF1 mutation in 47 patients from 35 families with Leigh syndrome and cytochrome c oxidase deficiency (see 220110) due to SURF1 mutations. The deletion was present in 89% of independent alleles. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0015 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1</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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SURF1, TRP227ARG
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<br />
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SNP: rs398122806,
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ClinVar: RCV000022780
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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>Najmabadi et al. (2011) identified homozygosity for an A-to-G transition in the SURF1 gene at genomic coordinate chr9:135209194 (NCBI36), resulting in a trp227-to-arg (W227R) substitution, in 2 sibs (family G008) with mildly delayed intellectual development, ataxia, short stature, and facial dysmorphism (MD4DN1; 220110), diagnosed as a mild form of Leigh syndrome. The first-cousin parents were heterozygous for the mutation and had 2 healthy children. </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>.0016 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K</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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SURF1, IVS2AS, A-G, -2
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<br />
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SNP: rs782726390,
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gnomAD: rs782726390,
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ClinVar: RCV000202482, RCV001090696
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 adult sibs, born of consanguineous Algerian parents, with autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K (CMT4K; 616684), Echaniz-Laguna et al. (2013) identified a homozygous A-to-G transition in intron 2 of the SURF1 gene (c.107-2A-G, NM_003172.3), predicted to result in a splice site alteration. Patient cells showed several aberrant transcripts resulting in premature termination that would be degraded by nonsense-mediated mRNA decay. Western blot analysis of mitochondria-enriched preparations of patient fibroblasts showed virtual absence of the SURF1 protein. Fully assembled COX was also markedly reduced. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0017 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K</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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SURF1, ARG192TRP
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<br />
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SNP: rs782190413,
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gnomAD: rs782190413,
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ClinVar: RCV000199387, RCV000202523, RCV000631410, RCV002492907, RCV003314575
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a French patient with autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K (CMT4K; 616684), Echaniz-Laguna et al. (2013) identified compound heterozygous mutations in the SURF1 gene: a c.574C-T transition (c.574C-T, NM_003172.3), resulting in an arg192-to-trp (R192W) substitution at a highly conserved residue, and a 2-bp deletion (c.799_800del; 185620.0018), resulting in a frameshift and premature termination (Leu267GlufsTer24). Each unaffected parent was heterozygous for one of the mutations. Functional studies and studies of patient cells were not performed. The patient was 1 of 40 unrelated patients with CMT4 who underwent analysis of the SURF1 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">
|
|
<strong>.0018 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SURF1, 2-BP DEL, NT799
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<br />
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SNP: rs864309500,
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ClinVar: RCV000202439, RCV001804940, RCV003389322
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</span>
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|
</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the 2-bp deletion (c.799_800del, NM_003172.3) in the SURF1 gene, resulting in a frameshift and premature termination (Leu267GlufsTer24), that was identified in a patient with autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K (CMT4K; 616684) by Echaniz-Laguna et al. (2013), see 185620.0017. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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|
</span>
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</h4>
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<div>
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Agostino, A., Invernizzi, F., Tiveron, C., Fagiolari, G., Prelle, A., Lamantea, E., Giavazzi, A., Battaglia, G., Tatangelo, L., Tiranti, V., Zeviani, M.
|
|
<strong>Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.</strong>
|
|
Hum. Molec. Genet. 12: 399-413, 2003.
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[PubMed: 12566387]
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[Full Text: https://doi.org/10.1093/hmg/ddg038]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bohm, M., Pronicka, E., Karczmarewicz, E., Pronicki, M., Piekutowska-Abramczuk, D., Sykut-Cegielska, J., Mierzewska, H., Hansikova, H., Vesela, K., Tesarova, M., Houstkova, H., Houstek, J., Zeman, J.
|
|
<strong>Retrospective, multicentric study of 180 children with cytochrome c oxidase deficiency.</strong>
|
|
Pediat. Res. 59: 21-26, 2006.
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[PubMed: 16326995]
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[Full Text: https://doi.org/10.1203/01.pdr.0000190572.68191.13]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Colombo, P., Yon, J., Garson, K., Fried, M.
|
|
<strong>Conservation of the organization of five tightly clustered genes over 600 million years of divergent evolution.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 6358-6362, 1992.
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|
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|
|
[PubMed: 1631131]
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[Full Text: https://doi.org/10.1073/pnas.89.14.6358]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Dell'Agnello, C., Leo, S., Agostino, A., Szabadkai, G., Tiveron, C., Zulian, A., Prelle, A., Roubertoux, P., Rizzuto, R., Zeviani, M.
|
|
<strong>Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice.</strong>
|
|
Hum. Molec. Genet. 16: 431-444, 2007.
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[PubMed: 17210671]
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[Full Text: https://doi.org/10.1093/hmg/ddl477]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Duhig, T., Ruhrberg, C., Mor, O., Fried, M.
|
|
<strong>The human surfeit locus.</strong>
|
|
Genomics 52: 72-78, 1998.
|
|
|
|
|
|
[PubMed: 9740673]
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|
|
[Full Text: https://doi.org/10.1006/geno.1998.5372]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Echaniz-Laguna, A., Ghezzi, D., Chassagne, M., Mayencon, M., Padet, S., Melchionda, L., Rouvet, I., Lannes, B., Bozon, D., Latour, P., Zeviani, M., Mousson de Camaret, B.
|
|
<strong>SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.</strong>
|
|
Neurology 81: 1523-1530, 2013.
|
|
|
|
|
|
[PubMed: 24027061]
|
|
|
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|
|
[Full Text: https://doi.org/10.1212/WNL.0b013e3182a4a518]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lennard, A., Gaston, K., Fried, M.
|
|
<strong>The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human.</strong>
|
|
DNA Cell Biol. 13: 1117-1126, 1994.
|
|
|
|
|
|
[PubMed: 7702754]
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|
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|
|
[Full Text: https://doi.org/10.1089/dna.1994.13.1117]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Moslemi, A.-R., Tulinius, M., Darin, N., Aman, P., Holme, E., Oldfors, A.
|
|
<strong>SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.</strong>
|
|
Neurology 61: 991-993, 2003.
|
|
|
|
|
|
[PubMed: 14557577]
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|
|
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|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000082391.98672.0a]
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|
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., Zecha, A., Mohseni, M., and 33 others.
|
|
<strong>Deep sequencing reveals 50 novel genes for recessive cognitive disorders.</strong>
|
|
Nature 478: 57-63, 2011.
|
|
|
|
|
|
[PubMed: 21937992]
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|
|
[Full Text: https://doi.org/10.1038/nature10423]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Pequignot, M. O., Dey, R., Zeviani, M., Tiranti, V., Godinot, C., Poyau, A., Sue, C., Di Mauro, S., Abitbol, M., Marsac, C.
|
|
<strong>Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency.</strong>
|
|
Hum. Mutat. 17: 374-381, 2001.
|
|
|
|
|
|
[PubMed: 11317352]
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|
|
[Full Text: https://doi.org/10.1002/humu.1112]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Poyau, A., Buchet, K., Bouzidi, M. F., Zabot, M.-T., Echenne, B., Yao, J., Shoubridge, E. A., Godinot, C.
|
|
<strong>Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.</strong>
|
|
Hum. Genet. 106: 194-205, 2000.
|
|
|
|
|
|
[PubMed: 10746561]
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|
|
[Full Text: https://doi.org/10.1007/s004390051028]
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|
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Rahman, S., Brown, R. M., Chong, W. K., Wilson, C. J., Brown, G. K.
|
|
<strong>A SURF1 gene mutation presenting as isolated leukodystrophy.</strong>
|
|
Ann. Neurol. 49: 797-800, 2001.
|
|
|
|
|
|
[PubMed: 11409433]
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|
|
[Full Text: https://doi.org/10.1002/ana.1060]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Salviati, L., Freehauf, C., Sacconi, S., DiMauro, S., Thoma, J., Tsai, A. C.-H.
|
|
<strong>Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh syndrome.</strong>
|
|
Am. J. Med. Genet. 128A: 195-198, 2004.
|
|
|
|
|
|
[PubMed: 15214016]
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|
|
[Full Text: https://doi.org/10.1002/ajmg.a.30073]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Stubbs, L., Huxley, C., Hogan, B., Evans, T., Fried, M., Duboule, D., Lehrach, H.
|
|
<strong>The HOX-5 and surfeit gene clusters are linked in the proximal portion of mouse chromosome 2.</strong>
|
|
Genomics 6: 645-650, 1990.
|
|
|
|
|
|
[PubMed: 1971250]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(90)90499-k]
|
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|
|
</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Teraoka, M., Yokoyama, Y., Ninomiya, S., Inoue, C., Yamashita, S., Seino, Y.
|
|
<strong>Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.</strong>
|
|
Hum. Genet. 105: 560-563, 1999.
|
|
|
|
|
|
[PubMed: 10647889]
|
|
|
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|
|
[Full Text: https://doi.org/10.1007/s004399900191]
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|
|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Tiranti, V., Galimberti, C., Nijtmans, L., Bovolenta, S., Perini, M. P., Zeviani, M.
|
|
<strong>Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.</strong>
|
|
Hum. Molec. Genet. 8: 2533-2540, 1999.
|
|
|
|
|
|
[PubMed: 10556302]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/8.13.2533]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Tiranti, V., Hoertnagel, K., Carrozzo, R., Galimberti, C., Munaro, M., Grantiero, M., Zelante, L., Gasparini, P., Marzella, R., Rocchi, M., Bayona-Bafaluy, M. P., Enriquez, J.-A., Uziel, G., Bertini, E., Dionisi-Vici, C., Franco, B., Meitinger, T., Zeviani, M.
|
|
<strong>Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.</strong>
|
|
Am. J. Hum. Genet. 63: 1609-1621, 1998.
|
|
|
|
|
|
[PubMed: 9837813]
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|
|
[Full Text: https://doi.org/10.1086/302150]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Tiranti, V., Jaksch, M., Hofmann, S., Galimberti, C., Hoertnagel, K., Lulli, L., Freisinger, P., Bindoff, L., Gerbitz, K. D., Comi, G.-P., Uziel, G., Zeviani, M., Meitinger, T.
|
|
<strong>Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.</strong>
|
|
Ann. Neurol. 46: 161-166, 1999.
|
|
|
|
|
|
[PubMed: 10443880]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/1531-8249(199908)46:2<161::aid-ana4>3.0.co;2-o]
|
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|
</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Tiranti, V., Lamantea, E., Uziel, G., Zeviani, M., Gasparini, P., Marzella, R., Rocchi, M., Fried, M.
|
|
<strong>Leigh syndrome transmitted by uniparental disomy of chromosome 9.</strong>
|
|
J. Med. Genet. 36: 927-928, 1999.
|
|
|
|
|
|
[PubMed: 10636738]
|
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|
|
</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Williams, T., Yon, J., Huxley, C., Fried, M.
|
|
<strong>The mouse surfeit locus contains a very tight cluster of four 'housekeeping' genes which is conserved through evolution.</strong>
|
|
Proc. Nat. Acad. Sci. 85: 3527-3530, 1988.
|
|
|
|
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[PubMed: 2453062]
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[Full Text: https://doi.org/10.1073/pnas.85.10.3527]
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Yon, J., Jones, T., Garson, K., Sheer, D., Fried, M.
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<strong>The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-ABL and CAN proto-oncogenes at chromosome band 9q34.1.</strong>
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Hum. Molec. Genet. 2: 237-240, 1993.
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[PubMed: 8499913]
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[Full Text: https://doi.org/10.1093/hmg/2.3.237]
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Yon, J., Palmer, R. W., Sheer, D., Fried, M.
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<strong>Localization of the surfeit gene cluster containing the ribosomal protein gene L7a to chromosome bands 9q33-34.</strong>
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Ann. Hum. Genet. 53: 149-155, 1989.
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[PubMed: 2596824]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1989.tb01779.x]
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Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., Brown, G. K., Brown, R. M., Shoubridge, E. A.
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<strong>SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.</strong>
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Nature Genet. 20: 337-343, 1998.
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[PubMed: 9843204]
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[Full Text: https://doi.org/10.1038/3804]
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Cassandra L. Kniffin - updated : 10/23/2020<br>Cassandra L. Kniffin - updated : 12/10/2015<br>Ada Hamosh - updated : 1/6/2012<br>Patricia A. Hartz - updated : 6/25/2010<br>Patricia A. Hartz - updated : 11/10/2008<br>Carol A. Bocchini - updated : 11/3/2008<br>Cassandra L. Kniffin - updated : 5/30/2007<br>George E. Tiller - updated : 1/4/2005<br>Marla J. F. O'Neill - updated : 7/20/2004<br>Cassandra L. Kniffin - updated : 2/9/2004<br>Cassandra L. Kniffin - updated : 7/9/2003<br>Deborah L. Stone - updated : 11/24/2001<br>Victor A. McKusick - updated : 6/25/2001<br>Michael J. Wright - updated : 5/5/2000<br>Victor A. McKusick - updated : 3/8/2000<br>Victor A. McKusick - updated : 1/13/2000<br>Victor A. McKusick - updated : 1/11/1999<br>Victor A. McKusick - updated : 11/24/1998<br>Moyra Smith - updated : 1/2/1997
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Victor A. McKusick : 8/29/1989
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