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<title>
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Entry
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- *611725 - POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 7; KCTD7
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- OMIM
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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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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<p>
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<span class="h4">*611725</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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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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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>
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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="#mapping">Mapping</a>
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</li>
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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>
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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">
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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/611725">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>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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</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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<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=ENSG00000243335;t=ENST00000639828" 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=154881" 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=611725" 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=ENSG00000243335;t=ENST00000639828" 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_001167961,NM_153033" 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_153033" 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=611725" 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=13770&isoform_id=13770_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/KCTD7" 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/16552087,23308551,27503738,51094478,74732414,119628323,119628324,119628325,269784642" 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/Q96MP8" 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=154881" 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=ENSG00000243335;t=ENST00000639828" 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=KCTD7" 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=KCTD7" 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+154881" 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/KCTD7" 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:154881" 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/154881" 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=chr7&hgg_gene=ENST00000639828.2&hgg_start=66628881&hgg_end=66643229&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:21957" 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:21957" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611725[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=611725[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/KCTD7/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000243335" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=KCTD7" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=KCTD7" 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=KCTD7" 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=KCTD7&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/PA134884591" 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:21957" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2442265" 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/KCTD7#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:2442265" 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/154881/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=154881" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060804-2" 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="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=KCTD7&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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611725
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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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POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 7; KCTD7
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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=KCTD7" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KCTD7</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>
|
|
Cytogenetic location: <a href="/geneMap/7/301?start=-3&limit=10&highlight=301">7q11.21</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:66628881-66643229&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'})">7:66,628,881-66,643,229</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
|
</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/301?start=-3&limit=10&highlight=301">
|
|
7q11.21
|
|
</a>
|
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</span>
|
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</td>
|
|
|
|
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<td>
|
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<span class="mim-font">
|
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Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/entry/611726"> 611726 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
|
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</table>
|
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</div>
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</div>
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<p>Members of the KCTD gene family, including KCTD7, encode predicted proteins containing an N-terminal domain that is homologous to the T1 domain in voltage-gated potassium channels (see KCNA1, <a href="/entry/176260">176260</a>). KCTD7 displays a primary sequence and hydropathy profile indicating intracytoplasmic localization. EST database analysis showed that KCTD7 is expressed in human and mouse brain (<a href="#5" class="mim-tip-reference" title="Van Bogaert, P., Azizieh, R., Desir, J., Aeby, A., De Meirleir, L., Laes, J.-F., Christiaens, F., Abramowicz, M. J. <strong>Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.</strong> Ann. Neurol. 61: 579-586, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17455289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17455289</a>] [<a href="https://doi.org/10.1002/ana.21121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17455289">Van Bogaert et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17455289" 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="#4" class="mim-tip-reference" title="Staropoli, J. F., Karaa, A, Lim, E. T., Kirby, A., Elbalalesy, N., Romansky, S. G., Leydiker, K. B., Coppel, S. H., Barone, R., Xin, W., Macdonald, M. E., Abdenur, J. E., Daly, M. J., Sims, K. B., Cotman, S. L. <strong>A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.</strong> Am. J. Hum. Genet. 91: 202-208, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22748208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22748208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22748208[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.05.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22748208">Staropoli et al. (2012)</a> detected expression of a full-length 31-kD Kctd7 isoform in mouse brain. Other major immunoreactive bands included a 28-kD species in the spleen, liver, and kidneys, a 37-kD species in the kidneys, and a 62-kD form most likely corresponding to a stable dimer. The presence of multiple bands was consistent with alternative splicing and tissue-specific regulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22748208" 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="Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topcu, M., Gokben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O., Lehesjoki, A.-E. <strong>Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.</strong> J. Med. Genet. 49: 391-399, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693283[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693283">Kousi et al. (2012)</a> found expression of the Kctd7 gene in cultured mouse hippocampal cells. Expression was found in the cell soma, in neuritic varicosities along the developing neuronal extensions, and in neurite growth cones, but not in the nucleus. Kctd7 was widely expressed in neurons throughout the intact mouse brain, including in cortical neurons, in granular and pyramidal cell layers of the hippocampus, and in cerebellar Purkinje cells. However, not all neuronal cells were immunopositive for Kctd7, and expression was not seen in astrocytes or microglial cells. Expression was constant from P5 to 2 months in cerebellar lysates. Overexpression of KCTD7 in HeLa and COS-1 cells, which do not express endogenous KCTD7, showed diffuse cytosolic localization, with no colocalization with markers for endosomes, ER, Golgi, lysosomes, or the cytoskeleton. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693283" 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 KCTD7 gene maps to chromosome 7q11.2 (<a href="#5" class="mim-tip-reference" title="Van Bogaert, P., Azizieh, R., Desir, J., Aeby, A., De Meirleir, L., Laes, J.-F., Christiaens, F., Abramowicz, M. J. <strong>Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.</strong> Ann. Neurol. 61: 579-586, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17455289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17455289</a>] [<a href="https://doi.org/10.1002/ana.21121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17455289">Van Bogaert et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17455289" 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="Azizieh, R., Orduz, D., Van Bogaert, P., Bouschet, T., Rodriguez, W., Schiffmann, S. N., Pirson, I., Abramowicz, M. J. <strong>Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.</strong> Molec. Neurobiol. 44: 111-121, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21710140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21710140</a>] [<a href="https://doi.org/10.1007/s12035-011-8194-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21710140">Azizieh et al. (2011)</a> demonstrated that KCTD7 expression hyperpolarizes the cell membrane and reduces the excitability of transfected neurons in patch-clamp experiments. Kctd7 was expressed in hippocampal and Purkinje cells of the murine brain. Immunoprecipitation assays showed that KCTD7 directly interacted with cullin-3 (CUL3; <a href="/entry/603136">603136</a>), a component of the ubiquitin ligase complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21710140" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 affected members of a large consanguineous Moroccan family with progressive myoclonic epilepsy-3 (EPM3; <a href="/entry/611726">611726</a>), <a href="#5" class="mim-tip-reference" title="Van Bogaert, P., Azizieh, R., Desir, J., Aeby, A., De Meirleir, L., Laes, J.-F., Christiaens, F., Abramowicz, M. J. <strong>Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.</strong> Ann. Neurol. 61: 579-586, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17455289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17455289</a>] [<a href="https://doi.org/10.1002/ana.21121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17455289">Van Bogaert et al. (2007)</a> identified a homozygous mutation in the KCTD7 gene (<a href="#0001">611725.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17455289" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Mexican sibs with infantile onset of progressive myoclonic epilepsy and pathologic findings of neuronal ceroid lipofuscinosis in multiple cell types, <a href="#4" class="mim-tip-reference" title="Staropoli, J. F., Karaa, A, Lim, E. T., Kirby, A., Elbalalesy, N., Romansky, S. G., Leydiker, K. B., Coppel, S. H., Barone, R., Xin, W., Macdonald, M. E., Abdenur, J. E., Daly, M. J., Sims, K. B., Cotman, S. L. <strong>A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.</strong> Am. J. Hum. Genet. 91: 202-208, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22748208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22748208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22748208[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.05.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22748208">Staropoli et al. (2012)</a> identified a homozygous mutation in the KCTD7 gene (R184C; <a href="#0002">611725.0002</a>). The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. <a href="#4" class="mim-tip-reference" title="Staropoli, J. F., Karaa, A, Lim, E. T., Kirby, A., Elbalalesy, N., Romansky, S. G., Leydiker, K. B., Coppel, S. H., Barone, R., Xin, W., Macdonald, M. E., Abdenur, J. E., Daly, M. J., Sims, K. B., Cotman, S. L. <strong>A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.</strong> Am. J. Hum. Genet. 91: 202-208, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22748208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22748208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22748208[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.05.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22748208">Staropoli et al. (2012)</a> designated the phenotype CLN14 (<a href="/entry/611726">611726</a>). KCTD7 mutations were not found in 32 additional CLN samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22748208" 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 affected members of 7 unrelated families with progressive myoclonic epilepsy-3, <a href="#2" class="mim-tip-reference" title="Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topcu, M., Gokben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O., Lehesjoki, A.-E. <strong>Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.</strong> J. Med. Genet. 49: 391-399, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693283[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693283">Kousi et al. (2012)</a> identified 6 different mutations in the KCTD7 gene (see, e.g., <a href="#0003">611725.0003</a>-<a href="#0007">611725.0007</a>). All mutations were in the homozygous or compound heterozygous state. The initial mutations were found in 2 probands by homozygosity mapping followed by candidate gene sequencing, and the other mutations were found by screening of the gene in 108 Turkish patients and 1 Pakistani patient with the phenotype. Four mutations were missense, 1 was an in-frame deletion, and 1 was truncating. None of the patients with KCTD7 mutations tested had evidence of neuronal ceroid lipofuscinosis on skin biopsy, and none of 22 additional patients with neuronal ceroid lipofuscinosis carried mutations in the KCTD7 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 17-year-old Italian patient and a 7-year-old Pakistani patient with EPM3, <a href="#3" class="mim-tip-reference" title="Mastrangelo, M., Sartori, S., Simonati, A., Brinciotti, M., Moro, F., Nosadini, M., Pezzini, F., Doccini, S., Santorelli, F. M., Leuzzi, V. <strong>Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: the multifaceted phenotypic spectrum of KCTD7-related disorders.</strong> Europ. J. Med. Genet. 62: 103591, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30500434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30500434</a>] [<a href="https://doi.org/10.1016/j.ejmg.2018.11.025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30500434">Mastrangelo et al. (2019)</a> identified homozygous missense mutations in the KCTD7 gene (A178V, <a href="#0008">611725.0008</a> and G58R, <a href="/entry/617725#0009">617725.0009</a>, respectively). The mutations were identified by next-generation sequencing of a panel of 95 genes associated with early-onset epilepsies. The mutation segregated with the phenotype in both families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30500434" 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://www.ncbi.nlm.nih.gov/clinvar?term=611725[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITHOUT INTRACELLULAR INCLUSIONS</strong>
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KCTD7, ARG99TER
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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> rs267607199 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607199;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/rs267607199?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=rs267607199" 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=rs267607199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000886" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000886" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000886</a>
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<p>In 3 affected members of a large consanguineous Moroccan family with progressive myoclonic epilepsy-3 (EPM3; <a href="/entry/611726">611726</a>), <a href="#5" class="mim-tip-reference" title="Van Bogaert, P., Azizieh, R., Desir, J., Aeby, A., De Meirleir, L., Laes, J.-F., Christiaens, F., Abramowicz, M. J. <strong>Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.</strong> Ann. Neurol. 61: 579-586, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17455289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17455289</a>] [<a href="https://doi.org/10.1002/ana.21121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17455289">Van Bogaert et al. (2007)</a> identified a homozygous C-to-T transition in exon 2 of the KCTD7 gene, resulting in an arg99-to-ter (R99X) substitution. The patients had onset of myoclonic seizures and neurodegeneration between 16 and 24 months of age. The phenotype was severe and included mental retardation. The unaffected parents were heterozygous for the mutation. Ultrastructural analysis of a skin biopsy was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17455289" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0002 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS</strong>
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KCTD7, ARG184CYS
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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> rs387907246 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907246;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/rs387907246?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=rs387907246" 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=rs387907246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030608 OR RCV000519234 OR RCV000548914 OR RCV001582502 OR RCV002513270" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030608, RCV000519234, RCV000548914, RCV001582502, RCV002513270" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030608...</a>
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<span class="mim-text-font">
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<p>In 2 Mexican sibs with infantile onset of progressive myoclonic epilepsy (EPM3; <a href="/entry/611726">611726</a>) and intracellular inclusions, consistent with a diagnosis of neuronal ceroid lipofuscinosis (designated CLN14), <a href="#4" class="mim-tip-reference" title="Staropoli, J. F., Karaa, A, Lim, E. T., Kirby, A., Elbalalesy, N., Romansky, S. G., Leydiker, K. B., Coppel, S. H., Barone, R., Xin, W., Macdonald, M. E., Abdenur, J. E., Daly, M. J., Sims, K. B., Cotman, S. L. <strong>A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.</strong> Am. J. Hum. Genet. 91: 202-208, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22748208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22748208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22748208[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.05.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22748208">Staropoli et al. (2012)</a> identified a homozygous 550C-T transition in exon 4 of the KCTD7 gene, resulting in an arg184-to-cys (R184C) substitution. The mutation was found by exome sequencing and confirmed by Sanger sequencing. Each unaffected parent was heterozygous for the mutation, which was not found in over 6,000 controls. In cerebellar cells, wildtype KCTD7 showed broad, punctate cytoplasmic localization and distinct signal at the plasma membrane, whereas mutant A184C showed more diffuse cytoplasmic localization, markedly diminished signaling at the plasma membrane, and prominent cytoplasmic aggregates. These results suggested that the mutation affects the trafficking and/or solubility of KCTD7. Studies in HEK293T cells showed that the R184C mutation abrogated the interaction with cullin-3 (CUL3; <a href="/entry/603136">603136</a>), which <a href="#4" class="mim-tip-reference" title="Staropoli, J. F., Karaa, A, Lim, E. T., Kirby, A., Elbalalesy, N., Romansky, S. G., Leydiker, K. B., Coppel, S. H., Barone, R., Xin, W., Macdonald, M. E., Abdenur, J. E., Daly, M. J., Sims, K. B., Cotman, S. L. <strong>A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.</strong> Am. J. Hum. Genet. 91: 202-208, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22748208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22748208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22748208[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.05.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22748208">Staropoli et al. (2012)</a> suggested may lead to an accumulation of toxic intracellular proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22748208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0003 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITHOUT INTRACELLULAR INCLUSIONS</strong>
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KCTD7, ARG94TRP
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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> rs387907260 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907260;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/rs387907260?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=rs387907260" 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=rs387907260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030687" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030687" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030687</a>
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<span class="mim-text-font">
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<p>In a Turkish boy with progressive myoclonic epilepsy-3 (EPM3; <a href="/entry/611726">611726</a>), <a href="#2" class="mim-tip-reference" title="Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topcu, M., Gokben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O., Lehesjoki, A.-E. <strong>Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.</strong> J. Med. Genet. 49: 391-399, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693283[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693283">Kousi et al. (2012)</a> identified a homozygous 280C-T transition in exon 2 of the KCTD7 gene, resulting in an arg94-to-trp (R94W) substitution. The mutation was not found in 150 Turkish control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITHOUT INTRACELLULAR INCLUSIONS</strong>
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KCTD7, 1-BP DEL, 594C
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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> rs727502785 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502785;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/rs727502785?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=rs727502785" 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=rs727502785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030686 OR RCV001171988" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030686, RCV001171988" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030686...</a>
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<span class="mim-text-font">
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<p>In 2 unrelated Turkish patients with progressive myoclonic epilepsy-3 (EPM3; <a href="/entry/611726">611726</a>), <a href="#2" class="mim-tip-reference" title="Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topcu, M., Gokben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O., Lehesjoki, A.-E. <strong>Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.</strong> J. Med. Genet. 49: 391-399, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693283[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693283">Kousi et al. (2012)</a> identified a homozygous 1-bp deletion (594delC) in exon 4 of the KCTD7 gene, resulting in a frameshift and premature termination (Ile199SerfsTer74). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITHOUT INTRACELLULAR INCLUSIONS</strong>
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KCTD7, ASN273ILE
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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> rs387907261 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907261;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/rs387907261?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=rs387907261" 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=rs387907261" 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=RCV000030688" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030688" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030688</a>
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<p>In a Turkish boy with progressive myoclonic epilepsy-3 (EPM3; <a href="/entry/611726">611726</a>), <a href="#2" class="mim-tip-reference" title="Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topcu, M., Gokben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O., Lehesjoki, A.-E. <strong>Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.</strong> J. Med. Genet. 49: 391-399, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693283[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693283">Kousi et al. (2012)</a> identified a homozygous 818A-T transversion in exon 4 of the KCTD7 gene, resulting in an asn273-to-ile (N273I) substitution at a highly conserved residue. Another Turkish boy with the disorder was compound heterozygous for N273I and a 343G-T transversion, resulting in an asp115-to-tyr (D115Y; <a href="#0006">611725.0006</a>) substitution. The D115Y substitution did not occur at a highly conserved residue and was predicted to be benign, but neither mutation was found in 150 Turkish control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693283" 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>For discussion of the asp115-to-tyr (D115Y) mutation in the KCTD7 gene that was found in compound heterozygous state in a patient with progressive myoclonic epilepsy-3 (EPM3; <a href="/entry/611726">611726</a>) by <a href="#2" class="mim-tip-reference" title="Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topcu, M., Gokben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O., Lehesjoki, A.-E. <strong>Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.</strong> J. Med. Genet. 49: 391-399, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693283[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693283">Kousi et al. (2012)</a>, see <a href="#0005">611725.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693283" 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 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITHOUT INTRACELLULAR INCLUSIONS</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">rs387907263 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907263;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=rs387907263" 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=rs387907263" 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 Pakistani sibs, born of consanguineous parents, with progressive myoclonic epilepsy-3 (EPM3; <a href="/entry/611726">611726</a>), <a href="#2" class="mim-tip-reference" title="Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topcu, M., Gokben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O., Lehesjoki, A.-E. <strong>Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.</strong> J. Med. Genet. 49: 391-399, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693283[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693283">Kousi et al. (2012)</a> identified a homozygous 322C-A transversion in exon 3 of the KCTD7 gene, resulting in a leu108-to-met (L108M) substitution at a highly conserved residue. The mutation was not found in 150 Turkish control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITHOUT INTRACELLULAR INCLUSIONS</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> rs368001837 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs368001837;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/rs368001837?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=rs368001837" 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=rs368001837" 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=RCV000677304" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000677304" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000677304</a>
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<p>In a 17-year-old Italian patient with progressive myoclonic epilepsy-3 (EPM3; <a href="/entry/611726">611726</a>), <a href="#3" class="mim-tip-reference" title="Mastrangelo, M., Sartori, S., Simonati, A., Brinciotti, M., Moro, F., Nosadini, M., Pezzini, F., Doccini, S., Santorelli, F. M., Leuzzi, V. <strong>Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: the multifaceted phenotypic spectrum of KCTD7-related disorders.</strong> Europ. J. Med. Genet. 62: 103591, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30500434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30500434</a>] [<a href="https://doi.org/10.1016/j.ejmg.2018.11.025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30500434">Mastrangelo et al. (2019)</a> identified a homozygous c.533C-T transition (c.533C-T, NM_153033.4) in the KCTD7 gene, resulting in an ala178-to-val (A178V) substitution. The mutation was identified by next-generation sequencing of a panel of 95 genes associated with early-onset epilepsies. The variant was not present in the NCL or 1000 Genomes Project databases; it was present at a low frequency in the ExAC database (0.00002.47) and was not present in homozygous state in the gnomAD database. The mutation occurred at a conserved residue located outside of the BTB/POZ domain. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30500434" 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 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS</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> rs750033880 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs750033880;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/rs750033880?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=rs750033880" 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=rs750033880" 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=RCV000528353 OR RCV003883465" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000528353, RCV003883465" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000528353...</a>
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<p>In a 7-year-old Pakistani girl with progressive myoclonic epilepsy-3 (EPM3; <a href="/entry/611726">611726</a>), <a href="#3" class="mim-tip-reference" title="Mastrangelo, M., Sartori, S., Simonati, A., Brinciotti, M., Moro, F., Nosadini, M., Pezzini, F., Doccini, S., Santorelli, F. M., Leuzzi, V. <strong>Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: the multifaceted phenotypic spectrum of KCTD7-related disorders.</strong> Europ. J. Med. Genet. 62: 103591, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30500434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30500434</a>] [<a href="https://doi.org/10.1016/j.ejmg.2018.11.025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30500434">Mastrangelo et al. (2019)</a> identified a homozygous c.172G-A transition (c.172G-A, NM_153033.4) in the KCTD7 gene, resulting in a gly58-to-arg (G58R) substitution in the KCTD7 gene. The mutation was identified by Sanger sequencing. The variant was absent in the 1000 Genomes Project database, and present at a low frequency in ExAC (8.241e-6) and gnomAD (4.065e-6). The mutation occurred at a conserved residue in the BTB/POZ domain. Functional studies were not performed. The patient had seizures, action myoclonus, and lysosomal storage material on a skin biopsy, consistent with neuronal ceroid lipofuscinosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30500434" 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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Azizieh, R., Orduz, D., Van Bogaert, P., Bouschet, T., Rodriguez, W., Schiffmann, S. N., Pirson, I., Abramowicz, M. J.
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<strong>Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.</strong>
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Molec. Neurobiol. 44: 111-121, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21710140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21710140</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21710140" 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/s12035-011-8194-0" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Kousi2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topcu, M., Gokben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O., Lehesjoki, A.-E.
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<strong>Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.</strong>
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J. Med. Genet. 49: 391-399, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693283[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=22693283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2012-100859" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Mastrangelo2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mastrangelo, M., Sartori, S., Simonati, A., Brinciotti, M., Moro, F., Nosadini, M., Pezzini, F., Doccini, S., Santorelli, F. M., Leuzzi, V.
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<strong>Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: the multifaceted phenotypic spectrum of KCTD7-related disorders.</strong>
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Europ. J. Med. Genet. 62: 103591, 2019. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30500434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30500434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30500434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ejmg.2018.11.025" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Staropoli2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Staropoli, J. F., Karaa, A, Lim, E. T., Kirby, A., Elbalalesy, N., Romansky, S. G., Leydiker, K. B., Coppel, S. H., Barone, R., Xin, W., Macdonald, M. E., Abdenur, J. E., Daly, M. J., Sims, K. B., Cotman, S. L.
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<strong>A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.</strong>
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Am. J. Hum. Genet. 91: 202-208, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22748208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22748208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22748208[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=22748208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2012.05.023" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Van Bogaert2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Van Bogaert, P., Azizieh, R., Desir, J., Aeby, A., De Meirleir, L., Laes, J.-F., Christiaens, F., Abramowicz, M. J.
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<strong>Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.</strong>
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Ann. Neurol. 61: 579-586, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17455289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17455289</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17455289" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.21121" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 02/29/2024
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/22/2012<br>Cassandra L. Kniffin - updated : 7/31/2012
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 1/15/2008
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/29/2024
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/21/2016<br>mcolton : 05/08/2015<br>mcolton : 1/20/2015<br>carol : 8/29/2014<br>carol : 9/12/2013<br>carol : 8/22/2012<br>ckniffin : 8/22/2012<br>carol : 8/2/2012<br>ckniffin : 7/31/2012<br>wwang : 1/31/2008<br>ckniffin : 1/16/2008
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611725
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 7; KCTD7
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</h3>
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<br />
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: KCTD7</em></strong>
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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: 7q11.21
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:66,628,881-66,643,229 </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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</div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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<td rowspan="1">
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<span class="mim-font">
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7q11.21
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<td>
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<span class="mim-font">
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Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
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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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611726
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Members of the KCTD gene family, including KCTD7, encode predicted proteins containing an N-terminal domain that is homologous to the T1 domain in voltage-gated potassium channels (see KCNA1, 176260). KCTD7 displays a primary sequence and hydropathy profile indicating intracytoplasmic localization. EST database analysis showed that KCTD7 is expressed in human and mouse brain (Van Bogaert et al., 2007). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Staropoli et al. (2012) detected expression of a full-length 31-kD Kctd7 isoform in mouse brain. Other major immunoreactive bands included a 28-kD species in the spleen, liver, and kidneys, a 37-kD species in the kidneys, and a 62-kD form most likely corresponding to a stable dimer. The presence of multiple bands was consistent with alternative splicing and tissue-specific regulation. </p><p>Kousi et al. (2012) found expression of the Kctd7 gene in cultured mouse hippocampal cells. Expression was found in the cell soma, in neuritic varicosities along the developing neuronal extensions, and in neurite growth cones, but not in the nucleus. Kctd7 was widely expressed in neurons throughout the intact mouse brain, including in cortical neurons, in granular and pyramidal cell layers of the hippocampus, and in cerebellar Purkinje cells. However, not all neuronal cells were immunopositive for Kctd7, and expression was not seen in astrocytes or microglial cells. Expression was constant from P5 to 2 months in cerebellar lysates. Overexpression of KCTD7 in HeLa and COS-1 cells, which do not express endogenous KCTD7, showed diffuse cytosolic localization, with no colocalization with markers for endosomes, ER, Golgi, lysosomes, or the cytoskeleton. </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>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 KCTD7 gene maps to chromosome 7q11.2 (Van Bogaert et al., 2007). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Azizieh et al. (2011) demonstrated that KCTD7 expression hyperpolarizes the cell membrane and reduces the excitability of transfected neurons in patch-clamp experiments. Kctd7 was expressed in hippocampal and Purkinje cells of the murine brain. Immunoprecipitation assays showed that KCTD7 directly interacted with cullin-3 (CUL3; 603136), a component of the ubiquitin ligase complex. </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>In 3 affected members of a large consanguineous Moroccan family with progressive myoclonic epilepsy-3 (EPM3; 611726), Van Bogaert et al. (2007) identified a homozygous mutation in the KCTD7 gene (611725.0001). </p><p>In 2 Mexican sibs with infantile onset of progressive myoclonic epilepsy and pathologic findings of neuronal ceroid lipofuscinosis in multiple cell types, Staropoli et al. (2012) identified a homozygous mutation in the KCTD7 gene (R184C; 611725.0002). The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. Staropoli et al. (2012) designated the phenotype CLN14 (611726). KCTD7 mutations were not found in 32 additional CLN samples. </p><p>In affected members of 7 unrelated families with progressive myoclonic epilepsy-3, Kousi et al. (2012) identified 6 different mutations in the KCTD7 gene (see, e.g., 611725.0003-611725.0007). All mutations were in the homozygous or compound heterozygous state. The initial mutations were found in 2 probands by homozygosity mapping followed by candidate gene sequencing, and the other mutations were found by screening of the gene in 108 Turkish patients and 1 Pakistani patient with the phenotype. Four mutations were missense, 1 was an in-frame deletion, and 1 was truncating. None of the patients with KCTD7 mutations tested had evidence of neuronal ceroid lipofuscinosis on skin biopsy, and none of 22 additional patients with neuronal ceroid lipofuscinosis carried mutations in the KCTD7 gene. </p><p>In a 17-year-old Italian patient and a 7-year-old Pakistani patient with EPM3, Mastrangelo et al. (2019) identified homozygous missense mutations in the KCTD7 gene (A178V, 611725.0008 and G58R, 617725.0009, respectively). The mutations were identified by next-generation sequencing of a panel of 95 genes associated with early-onset epilepsies. The mutation segregated with the phenotype in both families. </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>ALLELIC VARIANTS</strong>
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</span>
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<strong>9 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITHOUT INTRACELLULAR INCLUSIONS</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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KCTD7, ARG99TER
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<br />
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SNP: rs267607199,
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gnomAD: rs267607199,
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ClinVar: RCV000000886
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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 3 affected members of a large consanguineous Moroccan family with progressive myoclonic epilepsy-3 (EPM3; 611726), Van Bogaert et al. (2007) identified a homozygous C-to-T transition in exon 2 of the KCTD7 gene, resulting in an arg99-to-ter (R99X) substitution. The patients had onset of myoclonic seizures and neurodegeneration between 16 and 24 months of age. The phenotype was severe and included mental retardation. The unaffected parents were heterozygous for the mutation. Ultrastructural analysis of a skin biopsy was normal. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS</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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KCTD7, ARG184CYS
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<br />
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SNP: rs387907246,
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gnomAD: rs387907246,
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ClinVar: RCV000030608, RCV000519234, RCV000548914, RCV001582502, RCV002513270
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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 Mexican sibs with infantile onset of progressive myoclonic epilepsy (EPM3; 611726) and intracellular inclusions, consistent with a diagnosis of neuronal ceroid lipofuscinosis (designated CLN14), Staropoli et al. (2012) identified a homozygous 550C-T transition in exon 4 of the KCTD7 gene, resulting in an arg184-to-cys (R184C) substitution. The mutation was found by exome sequencing and confirmed by Sanger sequencing. Each unaffected parent was heterozygous for the mutation, which was not found in over 6,000 controls. In cerebellar cells, wildtype KCTD7 showed broad, punctate cytoplasmic localization and distinct signal at the plasma membrane, whereas mutant A184C showed more diffuse cytoplasmic localization, markedly diminished signaling at the plasma membrane, and prominent cytoplasmic aggregates. These results suggested that the mutation affects the trafficking and/or solubility of KCTD7. Studies in HEK293T cells showed that the R184C mutation abrogated the interaction with cullin-3 (CUL3; 603136), which Staropoli et al. (2012) suggested may lead to an accumulation of toxic intracellular proteins. </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>.0003 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITHOUT INTRACELLULAR INCLUSIONS</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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KCTD7, ARG94TRP
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<br />
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SNP: rs387907260,
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gnomAD: rs387907260,
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ClinVar: RCV000030687
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Turkish boy with progressive myoclonic epilepsy-3 (EPM3; 611726), Kousi et al. (2012) identified a homozygous 280C-T transition in exon 2 of the KCTD7 gene, resulting in an arg94-to-trp (R94W) substitution. The mutation was not found in 150 Turkish control chromosomes. </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>.0004 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITHOUT INTRACELLULAR INCLUSIONS</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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KCTD7, 1-BP DEL, 594C
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<br />
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SNP: rs727502785,
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gnomAD: rs727502785,
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ClinVar: RCV000030686, RCV001171988
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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 unrelated Turkish patients with progressive myoclonic epilepsy-3 (EPM3; 611726), Kousi et al. (2012) identified a homozygous 1-bp deletion (594delC) in exon 4 of the KCTD7 gene, resulting in a frameshift and premature termination (Ile199SerfsTer74). </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>
|
|
<span class="mim-font">
|
|
<strong>.0005 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITHOUT INTRACELLULAR INCLUSIONS</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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KCTD7, ASN273ILE
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<br />
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SNP: rs387907261,
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gnomAD: rs387907261,
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ClinVar: RCV000030688
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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 Turkish boy with progressive myoclonic epilepsy-3 (EPM3; 611726), Kousi et al. (2012) identified a homozygous 818A-T transversion in exon 4 of the KCTD7 gene, resulting in an asn273-to-ile (N273I) substitution at a highly conserved residue. Another Turkish boy with the disorder was compound heterozygous for N273I and a 343G-T transversion, resulting in an asp115-to-tyr (D115Y; 611725.0006) substitution. The D115Y substitution did not occur at a highly conserved residue and was predicted to be benign, but neither mutation was found in 150 Turkish control chromosomes. </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>.0006 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITHOUT INTRACELLULAR INCLUSIONS</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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KCTD7, ASP115TYR
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<br />
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SNP: rs387907262,
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ClinVar: RCV000030689
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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 asp115-to-tyr (D115Y) mutation in the KCTD7 gene that was found in compound heterozygous state in a patient with progressive myoclonic epilepsy-3 (EPM3; 611726) by Kousi et al. (2012), see 611725.0005. </p>
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|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITHOUT INTRACELLULAR INCLUSIONS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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KCTD7, LEU108MET
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<br />
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|
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SNP: rs387907263,
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|
|
ClinVar: RCV000030690
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Pakistani sibs, born of consanguineous parents, with progressive myoclonic epilepsy-3 (EPM3; 611726), Kousi et al. (2012) identified a homozygous 322C-A transversion in exon 3 of the KCTD7 gene, resulting in a leu108-to-met (L108M) substitution at a highly conserved residue. The mutation was not found in 150 Turkish control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
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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>.0008 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITHOUT INTRACELLULAR INCLUSIONS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
KCTD7, ALA178VAL
|
|
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|
|
|
<br />
|
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|
|
SNP: rs368001837,
|
|
|
|
|
|
gnomAD: rs368001837,
|
|
|
|
|
|
ClinVar: RCV000677304
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 17-year-old Italian patient with progressive myoclonic epilepsy-3 (EPM3; 611726), Mastrangelo et al. (2019) identified a homozygous c.533C-T transition (c.533C-T, NM_153033.4) in the KCTD7 gene, resulting in an ala178-to-val (A178V) substitution. The mutation was identified by next-generation sequencing of a panel of 95 genes associated with early-onset epilepsies. The variant was not present in the NCL or 1000 Genomes Project databases; it was present at a low frequency in the ExAC database (0.00002.47) and was not present in homozygous state in the gnomAD database. The mutation occurred at a conserved residue located outside of the BTB/POZ domain. Functional studies were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KCTD7, GLY58ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs750033880,
|
|
|
|
|
|
gnomAD: rs750033880,
|
|
|
|
|
|
ClinVar: RCV000528353, RCV003883465
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-year-old Pakistani girl with progressive myoclonic epilepsy-3 (EPM3; 611726), Mastrangelo et al. (2019) identified a homozygous c.172G-A transition (c.172G-A, NM_153033.4) in the KCTD7 gene, resulting in a gly58-to-arg (G58R) substitution in the KCTD7 gene. The mutation was identified by Sanger sequencing. The variant was absent in the 1000 Genomes Project database, and present at a low frequency in ExAC (8.241e-6) and gnomAD (4.065e-6). The mutation occurred at a conserved residue in the BTB/POZ domain. Functional studies were not performed. The patient had seizures, action myoclonus, and lysosomal storage material on a skin biopsy, consistent with neuronal ceroid lipofuscinosis. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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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">
|
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Azizieh, R., Orduz, D., Van Bogaert, P., Bouschet, T., Rodriguez, W., Schiffmann, S. N., Pirson, I., Abramowicz, M. J.
|
|
<strong>Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.</strong>
|
|
Molec. Neurobiol. 44: 111-121, 2011.
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[PubMed: 21710140]
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[Full Text: https://doi.org/10.1007/s12035-011-8194-0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topcu, M., Gokben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O., Lehesjoki, A.-E.
|
|
<strong>Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.</strong>
|
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J. Med. Genet. 49: 391-399, 2012.
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[PubMed: 22693283]
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[Full Text: https://doi.org/10.1136/jmedgenet-2012-100859]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mastrangelo, M., Sartori, S., Simonati, A., Brinciotti, M., Moro, F., Nosadini, M., Pezzini, F., Doccini, S., Santorelli, F. M., Leuzzi, V.
|
|
<strong>Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: the multifaceted phenotypic spectrum of KCTD7-related disorders.</strong>
|
|
Europ. J. Med. Genet. 62: 103591, 2019. Note: Electronic Article.
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[PubMed: 30500434]
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[Full Text: https://doi.org/10.1016/j.ejmg.2018.11.025]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Staropoli, J. F., Karaa, A, Lim, E. T., Kirby, A., Elbalalesy, N., Romansky, S. G., Leydiker, K. B., Coppel, S. H., Barone, R., Xin, W., Macdonald, M. E., Abdenur, J. E., Daly, M. J., Sims, K. B., Cotman, S. L.
|
|
<strong>A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.</strong>
|
|
Am. J. Hum. Genet. 91: 202-208, 2012.
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[PubMed: 22748208]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.05.023]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Van Bogaert, P., Azizieh, R., Desir, J., Aeby, A., De Meirleir, L., Laes, J.-F., Christiaens, F., Abramowicz, M. J.
|
|
<strong>Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.</strong>
|
|
Ann. Neurol. 61: 579-586, 2007.
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[PubMed: 17455289]
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[Full Text: https://doi.org/10.1002/ana.21121]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 02/29/2024<br>Cassandra L. Kniffin - updated : 8/22/2012<br>Cassandra L. Kniffin - updated : 7/31/2012
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 1/15/2008
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 02/29/2024<br>carol : 10/21/2016<br>mcolton : 05/08/2015<br>mcolton : 1/20/2015<br>carol : 8/29/2014<br>carol : 9/12/2013<br>carol : 8/22/2012<br>ckniffin : 8/22/2012<br>carol : 8/2/2012<br>ckniffin : 7/31/2012<br>wwang : 1/31/2008<br>ckniffin : 1/16/2008
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