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Entry
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- *611150 - ATAXIN 10; ATXN10
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- OMIM
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<p>
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<span class="h4">*611150</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/611150">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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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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<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 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=ENSG00000130638;t=ENST00000252934" 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=25814" 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=611150" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000130638;t=ENST00000252934" 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_001167621,NM_013236,XM_047441314" 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_013236" 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=611150" 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=04624&isoform_id=04624_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/ATXN10" 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/4886465,6563250,6807898,7106299,13960135,17372671,33150550,47678667,48146879,119593798,119593799,194377336,266453278,2217339506,2462584581" 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/Q9UBB4" 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=25814" 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=ENSG00000130638;t=ENST00000252934" 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=ATXN10" 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=ATXN10" 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+25814" 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/ATXN10" 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:25814" 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/25814" 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=chr22&hgg_gene=ENST00000252934.10&hgg_start=45671834&hgg_end=45845307&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 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611150[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=611150[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/ATXN10/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/ENSG00000130638" 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=ATXN10" 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=ATXN10" 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=ATXN10" 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=ATXN10&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/PA34959" 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:10549" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0034266.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1859293" 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/ATXN10#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:1859293" 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/25814/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=25814" 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-060503-180" 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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:25814" 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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<div><a href="https://reactome.org/content/query?q=ATXN10&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 715754007<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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611150
|
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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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ATAXIN 10; ATXN10
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
E46-LIKE; E46L
|
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</span>
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ATXN10" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ATXN10</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/22/380?start=-3&limit=10&highlight=380">22q13.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr22:45671834-45845307&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'})">22:45,671,834-45,845,307</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">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
<a href="/geneMap/22/380?start=-3&limit=10&highlight=380">
|
|
22q13.31
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Spinocerebellar ataxia 10
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/603516"> 603516 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/611150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/611150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
|
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
|
</span>
|
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</span>
|
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</h4>
|
|
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<p>By positional cloning in the spinocerebellar ataxia-10 (SCA10; <a href="/entry/603516">603516</a>) candidate region on chromosome 22q13-qter, <a href="#4" class="mim-tip-reference" title="Matsuura, T., Yamagata, T., Burgess, D. L., Rasmussen, A., Grewal, R. P., Watase, K., Khajavi, M., McCall, A. E., Davis, C. F., Zu, L., Achari, M., Pulst, S. M., Alonso, E., Noebels, J. L., Nelson, D. L., Zoghbi, H. Y., Ashizawa, T. <strong>Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.</strong> Nature Genet. 26: 191-194, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11017075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11017075</a>] [<a href="https://doi.org/10.1038/79911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11017075">Matsuura et al. (2000)</a> identified a gene, ataxin-10 (ATXN10), encoding a deduced 475-amino acid protein with 82% identity with a presumed mouse ortholog (E46). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11017075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By Northern blot analysis, <a href="#7" class="mim-tip-reference" title="Wakamiya, M., Matsuura, T., Liu, Y., Schuster, G. C., Gao, R., Xu, W., Sarkar, P. S., Lin, X., Ashizawa, T. <strong>The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10.</strong> Neurology 67: 607-613, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16924013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16924013</a>] [<a href="https://doi.org/10.1212/01.wnl.0000231140.26253.eb" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16924013">Wakamiya et al. (2006)</a> identified a 2-kb mRNA ATXN10 transcript. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16924013" 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="Matsuura, T., Yamagata, T., Burgess, D. L., Rasmussen, A., Grewal, R. P., Watase, K., Khajavi, M., McCall, A. E., Davis, C. F., Zu, L., Achari, M., Pulst, S. M., Alonso, E., Noebels, J. L., Nelson, D. L., Zoghbi, H. Y., Ashizawa, T. <strong>Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.</strong> Nature Genet. 26: 191-194, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11017075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11017075</a>] [<a href="https://doi.org/10.1038/79911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11017075">Matsuura et al. (2000)</a> presented a schematic representation of the structure of the ATXN10 gene, which has 12 exons and spans 172.8 kb of genomic DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11017075" 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 ATXN10 gene maps to chromosome 22q13 (<a href="#4" class="mim-tip-reference" title="Matsuura, T., Yamagata, T., Burgess, D. L., Rasmussen, A., Grewal, R. P., Watase, K., Khajavi, M., McCall, A. E., Davis, C. F., Zu, L., Achari, M., Pulst, S. M., Alonso, E., Noebels, J. L., Nelson, D. L., Zoghbi, H. Y., Ashizawa, T. <strong>Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.</strong> Nature Genet. 26: 191-194, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11017075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11017075</a>] [<a href="https://doi.org/10.1038/79911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11017075">Matsuura et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11017075" 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 all affected patients from 5 Mexican families with spinocerebellar ataxia-10, <a href="#4" class="mim-tip-reference" title="Matsuura, T., Yamagata, T., Burgess, D. L., Rasmussen, A., Grewal, R. P., Watase, K., Khajavi, M., McCall, A. E., Davis, C. F., Zu, L., Achari, M., Pulst, S. M., Alonso, E., Noebels, J. L., Nelson, D. L., Zoghbi, H. Y., Ashizawa, T. <strong>Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.</strong> Nature Genet. 26: 191-194, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11017075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11017075</a>] [<a href="https://doi.org/10.1038/79911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11017075">Matsuura et al. (2000)</a> found an expansion of a pentanucleotide (ATTCT) repeat in intron 9 of the ATXN10 gene (<a href="/entry/601150#0001">601150.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11017075" 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 4 Mexican families with SCA10, <a href="#6" class="mim-tip-reference" title="Rasmussen, A., Matsuura, T., Ruano, L., Yescas, P., Ochoa, A., Ashizawa, T., Alonso, E. <strong>Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.</strong> Ann. Neurol. 50: 234-239, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11506407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11506407</a>] [<a href="https://doi.org/10.1002/ana.1081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11506407">Rasmussen et al. (2001)</a> identified expanded ATTCT repeats ranging from 920 to 4,140 repeats. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11506407" 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="Fang, P., Matsuura, T., Teive, H. A. G., Raskin, S., Jayakar, P., Schmitt, E., Ashizawa, T., Roa, B. B. <strong>Spinocerebellar ataxia type 10 ATTCT repeat expansions in Brazilian patients and in a patient with early onset ataxia. (Abstract)</strong> Am. J. Med. Genet. 71 (suppl.): 552 only, 2002."None>Fang et al. (2002)</a> reported a 19-year-old Hispanic woman from the U.S. with SCA10 who was found to have a 280-repeat expansion. Her asymptomatic mother had the same expansion. This was the smallest SCA10 expansion mutation identified to date. <a href="#1" class="mim-tip-reference" title="Alonso, I., Jardim, L. B., Artigalas, O., Saraiva-Pereira, M. L., Matsuura, T., Ashizawa, T., Sequeiros, J., Silveira, I. <strong>Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10.</strong> Neurology 66: 1602-1604, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16717236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16717236</a>] [<a href="https://doi.org/10.1212/01.wnl.0000216266.30177.bb" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16717236">Alonso et al. (2006)</a> reported a Brazilian family in which the proband had a 400-repeat expansion in the ATXN10 gene. She was a 59-year-old woman with gait ataxia since age 50 years. She also had mild limb ataxia, dysarthria, extensor plantar responses, and moderate axonal peripheral neuropathy. Two unaffected sibs and her unaffected father, aged 65, 56, and 90, had alleles of 370 and 360. In another Brazilian family, the affected son inherited an allele of 750 repeats from his affected mother who had 760 repeats. <a href="#1" class="mim-tip-reference" title="Alonso, I., Jardim, L. B., Artigalas, O., Saraiva-Pereira, M. L., Matsuura, T., Ashizawa, T., Sequeiros, J., Silveira, I. <strong>Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10.</strong> Neurology 66: 1602-1604, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16717236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16717236</a>] [<a href="https://doi.org/10.1212/01.wnl.0000216266.30177.bb" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16717236">Alonso et al. (2006)</a> noted that the first family lowered the threshold of repeat numbers for pathogenesis down to 400. Combined with the report of <a href="#2" class="mim-tip-reference" title="Fang, P., Matsuura, T., Teive, H. A. G., Raskin, S., Jayakar, P., Schmitt, E., Ashizawa, T., Roa, B. B. <strong>Spinocerebellar ataxia type 10 ATTCT repeat expansions in Brazilian patients and in a patient with early onset ataxia. (Abstract)</strong> Am. J. Med. Genet. 71 (suppl.): 552 only, 2002."None>Fang et al. (2002)</a>, the findings suggested that there may be reduced penetrance for SCA10 alleles of 280 to 370 repeats. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16717236" 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="#7" class="mim-tip-reference" title="Wakamiya, M., Matsuura, T., Liu, Y., Schuster, G. C., Gao, R., Xu, W., Sarkar, P. S., Lin, X., Ashizawa, T. <strong>The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10.</strong> Neurology 67: 607-613, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16924013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16924013</a>] [<a href="https://doi.org/10.1212/01.wnl.0000231140.26253.eb" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16924013">Wakamiya et al. (2006)</a> detected normal sizes and amounts of ATXN10 mRNA transcripts in multiple cell lines derived from patients with SCA10. SCA10 cell lines showed that the expanded repeat did not interfere with transcription or processing of the ATXN10 gene and also did not affect the transcription of neighboring genes. <a href="#7" class="mim-tip-reference" title="Wakamiya, M., Matsuura, T., Liu, Y., Schuster, G. C., Gao, R., Xu, W., Sarkar, P. S., Lin, X., Ashizawa, T. <strong>The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10.</strong> Neurology 67: 607-613, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16924013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16924013</a>] [<a href="https://doi.org/10.1212/01.wnl.0000231140.26253.eb" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16924013">Wakamiya et al. (2006)</a> concluded that a simple haploinsufficiency, gain-of-function, or neighboring gene effect are unlikely mechanisms contributing to SCA10 and suggested that a transdominant mechanism may be at work. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16924013" 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="#5" class="mim-tip-reference" title="McFarland, K. N., Liu, J., Landrian, I., Gao, R., Sarkar, P. S., Raskin, S., Moscovich, M., Gatto, E. M., Teive, H. A. G., Ochoa, A., Rasmussen, A., Ashizawa, T. <strong>Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.</strong> Europ. J. Hum. Genet. 21: 1272-1276, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23443018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23443018</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23443018[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/10.1038/ejhg.2013.32" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23443018">McFarland et al. (2013)</a> identified 3 different repeat interruptions at the 5- and 3-prime ends of the ATTCT ATXN10 expansion. Two heptanucleotide repeats were found at the 5-prime end and a pentanucleotide repeat was found at the 3-prime end. A specifically designed PCR assay showed that in some cells derived from SCA10 patients, stretches of the pure ATTCT pathogenic repeat were frequently interrupted by combinations of the 3 repeats; the interruptions thus occurred within the pathogenic SCA10-specific repeat. Among 31 SCA10 families tested, the ATXN10 expansion size was larger in patients with an interrupted pathogenic allele. However, there was no difference in the age at onset compared with those expansions without detectable interruptions. An inverse correlation between the expansion size and the age at onset was found only with SCA10 alleles without interruptions. Interrupted expansion alleles showed anticipation but were accompanied by a paradoxical contraction in intergenerational repeat size, and there was evidence of a paternal effect. The findings suggested that SCA10 expansions with ATCCT interruptions differ from SCA10 expansions without detectable ATCCT interruptions in repeat size-instability dynamics and pathogenicity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23443018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Wakamiya, M., Matsuura, T., Liu, Y., Schuster, G. C., Gao, R., Xu, W., Sarkar, P. S., Lin, X., Ashizawa, T. <strong>The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10.</strong> Neurology 67: 607-613, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16924013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16924013</a>] [<a href="https://doi.org/10.1212/01.wnl.0000231140.26253.eb" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16924013">Wakamiya et al. (2006)</a> found that Atxn10-null mice died at early postimplantation stage, whereas heterozygous mutants were overtly normal and showed no motor abnormalities. Histologic examination of brain tissue from heterozygous mice also showed no abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16924013" 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>.0001 SPINOCEREBELLAR ATAXIA 10</strong>
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ATXN10, (ATTCT)n REPEAT EXPANSION
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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> rs60726084 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs60726084;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/rs60726084?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=rs60726084" 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=rs60726084" 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=RCV000001054" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001054" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001054</a>
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<p>In all affected members of 5 Mexican families with SCA10 (<a href="/entry/603516">603516</a>), <a href="#4" class="mim-tip-reference" title="Matsuura, T., Yamagata, T., Burgess, D. L., Rasmussen, A., Grewal, R. P., Watase, K., Khajavi, M., McCall, A. E., Davis, C. F., Zu, L., Achari, M., Pulst, S. M., Alonso, E., Noebels, J. L., Nelson, D. L., Zoghbi, H. Y., Ashizawa, T. <strong>Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.</strong> Nature Genet. 26: 191-194, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11017075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11017075</a>] [<a href="https://doi.org/10.1038/79911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11017075">Matsuura et al. (2000)</a> detected expansion of a pentanucleotide (ATTCT) repeat in intron 9 of the ATXN10 gene. There was an inverse correlation between the expansion size, up to 22.5 kb larger than the normal allele, and the age of onset. Analysis of 562 chromosomes from unaffected individuals of various ethnic origins, including 242 chromosomes from Mexicans, showed a range of 10 to 22 ATTCT repeats with no evidence of expansions. The data indicated that the ATXN10 intronic ATTCT pentanucleotide repeat in SCA10 patients is unstable and represented the largest microsatellite expansion found to that time in the human genome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11017075" 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 multigenerational study, <a href="#3" class="mim-tip-reference" title="Matsuura, T., Fang, P., Lin, X., Khajavi, M., Tsuji, K., Rasmussen, A., Grewal, R. P., Achari, M., Alonso, M. E., Pulst, S. M., Zoghbi, H. Y., Nelson, D. L., Roa, B. B., Ashizawa, T. <strong>Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.</strong> Am. J. Hum. Genet. 74: 1216-1224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15127363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15127363</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15127363[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/421526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15127363">Matsuura et al. (2004)</a> demonstrated that (1) the expanded ATTCT repeats are highly unstable when paternally transmitted, whereas maternal transmission results in significantly smaller changes in repeat size; (2) blood leukocytes, lymphoblastoid cells, buccal cells, and sperm have a variable degree of mosaicism in ATTCT expansion; (3) the length of the expanded repeat was not observed to change in individuals over a 5-year period; and (4) clinically determined anticipation is sometimes associated with intergenerational contraction rather than expansion of the ATTCT repeat. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15127363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Alonso2006" class="mim-anchor"></a>
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Alonso, I., Jardim, L. B., Artigalas, O., Saraiva-Pereira, M. L., Matsuura, T., Ashizawa, T., Sequeiros, J., Silveira, I.
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<strong>Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10.</strong>
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Neurology 66: 1602-1604, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16717236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16717236</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16717236" 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/10.1212/01.wnl.0000216266.30177.bb" target="_blank">Full Text</a>]
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Fang, P., Matsuura, T., Teive, H. A. G., Raskin, S., Jayakar, P., Schmitt, E., Ashizawa, T., Roa, B. B.
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<strong>Spinocerebellar ataxia type 10 ATTCT repeat expansions in Brazilian patients and in a patient with early onset ataxia. (Abstract)</strong>
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Am. J. Med. Genet. 71 (suppl.): 552 only, 2002.
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Matsuura, T., Fang, P., Lin, X., Khajavi, M., Tsuji, K., Rasmussen, A., Grewal, R. P., Achari, M., Alonso, M. E., Pulst, S. M., Zoghbi, H. Y., Nelson, D. L., Roa, B. B., Ashizawa, T.
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<strong>Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.</strong>
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Am. J. Hum. Genet. 74: 1216-1224, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15127363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15127363</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15127363[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=15127363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/421526" target="_blank">Full Text</a>]
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Matsuura, T., Yamagata, T., Burgess, D. L., Rasmussen, A., Grewal, R. P., Watase, K., Khajavi, M., McCall, A. E., Davis, C. F., Zu, L., Achari, M., Pulst, S. M., Alonso, E., Noebels, J. L., Nelson, D. L., Zoghbi, H. Y., Ashizawa, T.
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<strong>Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.</strong>
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Nature Genet. 26: 191-194, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11017075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11017075</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11017075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/79911" target="_blank">Full Text</a>]
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McFarland, K. N., Liu, J., Landrian, I., Gao, R., Sarkar, P. S., Raskin, S., Moscovich, M., Gatto, E. M., Teive, H. A. G., Ochoa, A., Rasmussen, A., Ashizawa, T.
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<strong>Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.</strong>
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Europ. J. Hum. Genet. 21: 1272-1276, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23443018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23443018</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23443018[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=23443018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2013.32" target="_blank">Full Text</a>]
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Rasmussen, A., Matsuura, T., Ruano, L., Yescas, P., Ochoa, A., Ashizawa, T., Alonso, E.
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<strong>Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.</strong>
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Ann. Neurol. 50: 234-239, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11506407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11506407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11506407" 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.1081" target="_blank">Full Text</a>]
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Wakamiya, M., Matsuura, T., Liu, Y., Schuster, G. C., Gao, R., Xu, W., Sarkar, P. S., Lin, X., Ashizawa, T.
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<strong>The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10.</strong>
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Neurology 67: 607-613, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16924013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16924013</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16924013" 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/10.1212/01.wnl.0000231140.26253.eb" target="_blank">Full Text</a>]
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Cassandra L. Kniffin : 6/28/2007
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alopez : 10/31/2019<br>carol : 12/13/2013<br>ckniffin : 12/5/2013<br>wwang : 8/20/2007<br>ckniffin : 8/2/2007<br>carol : 6/29/2007<br>carol : 6/29/2007<br>ckniffin : 6/29/2007<br>ckniffin : 6/29/2007
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ATXN10</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 715754007;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 22q13.31
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Genomic coordinates <span class="small">(GRCh38)</span> : 22:45,671,834-45,845,307 </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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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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22q13.31
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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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Spinocerebellar ataxia 10
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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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603516
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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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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<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>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>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By positional cloning in the spinocerebellar ataxia-10 (SCA10; 603516) candidate region on chromosome 22q13-qter, Matsuura et al. (2000) identified a gene, ataxin-10 (ATXN10), encoding a deduced 475-amino acid protein with 82% identity with a presumed mouse ortholog (E46). </p><p>By Northern blot analysis, Wakamiya et al. (2006) identified a 2-kb mRNA ATXN10 transcript. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Matsuura et al. (2000) presented a schematic representation of the structure of the ATXN10 gene, which has 12 exons and spans 172.8 kb of genomic DNA. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The ATXN10 gene maps to chromosome 22q13 (Matsuura et al., 2000). </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 all affected patients from 5 Mexican families with spinocerebellar ataxia-10, Matsuura et al. (2000) found an expansion of a pentanucleotide (ATTCT) repeat in intron 9 of the ATXN10 gene (601150.0001). </p><p>In affected members of 4 Mexican families with SCA10, Rasmussen et al. (2001) identified expanded ATTCT repeats ranging from 920 to 4,140 repeats. </p><p>Fang et al. (2002) reported a 19-year-old Hispanic woman from the U.S. with SCA10 who was found to have a 280-repeat expansion. Her asymptomatic mother had the same expansion. This was the smallest SCA10 expansion mutation identified to date. Alonso et al. (2006) reported a Brazilian family in which the proband had a 400-repeat expansion in the ATXN10 gene. She was a 59-year-old woman with gait ataxia since age 50 years. She also had mild limb ataxia, dysarthria, extensor plantar responses, and moderate axonal peripheral neuropathy. Two unaffected sibs and her unaffected father, aged 65, 56, and 90, had alleles of 370 and 360. In another Brazilian family, the affected son inherited an allele of 750 repeats from his affected mother who had 760 repeats. Alonso et al. (2006) noted that the first family lowered the threshold of repeat numbers for pathogenesis down to 400. Combined with the report of Fang et al. (2002), the findings suggested that there may be reduced penetrance for SCA10 alleles of 280 to 370 repeats. </p><p>Wakamiya et al. (2006) detected normal sizes and amounts of ATXN10 mRNA transcripts in multiple cell lines derived from patients with SCA10. SCA10 cell lines showed that the expanded repeat did not interfere with transcription or processing of the ATXN10 gene and also did not affect the transcription of neighboring genes. Wakamiya et al. (2006) concluded that a simple haploinsufficiency, gain-of-function, or neighboring gene effect are unlikely mechanisms contributing to SCA10 and suggested that a transdominant mechanism may be at work. </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>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</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>McFarland et al. (2013) identified 3 different repeat interruptions at the 5- and 3-prime ends of the ATTCT ATXN10 expansion. Two heptanucleotide repeats were found at the 5-prime end and a pentanucleotide repeat was found at the 3-prime end. A specifically designed PCR assay showed that in some cells derived from SCA10 patients, stretches of the pure ATTCT pathogenic repeat were frequently interrupted by combinations of the 3 repeats; the interruptions thus occurred within the pathogenic SCA10-specific repeat. Among 31 SCA10 families tested, the ATXN10 expansion size was larger in patients with an interrupted pathogenic allele. However, there was no difference in the age at onset compared with those expansions without detectable interruptions. An inverse correlation between the expansion size and the age at onset was found only with SCA10 alleles without interruptions. Interrupted expansion alleles showed anticipation but were accompanied by a paradoxical contraction in intergenerational repeat size, and there was evidence of a paternal effect. The findings suggested that SCA10 expansions with ATCCT interruptions differ from SCA10 expansions without detectable ATCCT interruptions in repeat size-instability dynamics and pathogenicity. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Wakamiya et al. (2006) found that Atxn10-null mice died at early postimplantation stage, whereas heterozygous mutants were overtly normal and showed no motor abnormalities. Histologic examination of brain tissue from heterozygous mice also showed no abnormalities. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
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|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>1 Selected Example):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 SPINOCEREBELLAR ATAXIA 10</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ATXN10, (ATTCT)n REPEAT EXPANSION
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs60726084,
|
|
|
|
|
|
gnomAD: rs60726084,
|
|
|
|
|
|
ClinVar: RCV000001054
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In all affected members of 5 Mexican families with SCA10 (603516), Matsuura et al. (2000) detected expansion of a pentanucleotide (ATTCT) repeat in intron 9 of the ATXN10 gene. There was an inverse correlation between the expansion size, up to 22.5 kb larger than the normal allele, and the age of onset. Analysis of 562 chromosomes from unaffected individuals of various ethnic origins, including 242 chromosomes from Mexicans, showed a range of 10 to 22 ATTCT repeats with no evidence of expansions. The data indicated that the ATXN10 intronic ATTCT pentanucleotide repeat in SCA10 patients is unstable and represented the largest microsatellite expansion found to that time in the human genome. </p><p>In a multigenerational study, Matsuura et al. (2004) demonstrated that (1) the expanded ATTCT repeats are highly unstable when paternally transmitted, whereas maternal transmission results in significantly smaller changes in repeat size; (2) blood leukocytes, lymphoblastoid cells, buccal cells, and sperm have a variable degree of mosaicism in ATTCT expansion; (3) the length of the expanded repeat was not observed to change in individuals over a 5-year period; and (4) clinically determined anticipation is sometimes associated with intergenerational contraction rather than expansion of the ATTCT repeat. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
</div>
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</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Alonso, I., Jardim, L. B., Artigalas, O., Saraiva-Pereira, M. L., Matsuura, T., Ashizawa, T., Sequeiros, J., Silveira, I.
|
|
<strong>Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10.</strong>
|
|
Neurology 66: 1602-1604, 2006.
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|
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|
|
[PubMed: 16717236]
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|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000216266.30177.bb]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fang, P., Matsuura, T., Teive, H. A. G., Raskin, S., Jayakar, P., Schmitt, E., Ashizawa, T., Roa, B. B.
|
|
<strong>Spinocerebellar ataxia type 10 ATTCT repeat expansions in Brazilian patients and in a patient with early onset ataxia. (Abstract)</strong>
|
|
Am. J. Med. Genet. 71 (suppl.): 552 only, 2002.
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|
|
</p>
|
|
</li>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Matsuura, T., Fang, P., Lin, X., Khajavi, M., Tsuji, K., Rasmussen, A., Grewal, R. P., Achari, M., Alonso, M. E., Pulst, S. M., Zoghbi, H. Y., Nelson, D. L., Roa, B. B., Ashizawa, T.
|
|
<strong>Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.</strong>
|
|
Am. J. Hum. Genet. 74: 1216-1224, 2004.
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[PubMed: 15127363]
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[Full Text: https://doi.org/10.1086/421526]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Matsuura, T., Yamagata, T., Burgess, D. L., Rasmussen, A., Grewal, R. P., Watase, K., Khajavi, M., McCall, A. E., Davis, C. F., Zu, L., Achari, M., Pulst, S. M., Alonso, E., Noebels, J. L., Nelson, D. L., Zoghbi, H. Y., Ashizawa, T.
|
|
<strong>Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.</strong>
|
|
Nature Genet. 26: 191-194, 2000.
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[PubMed: 11017075]
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[Full Text: https://doi.org/10.1038/79911]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
McFarland, K. N., Liu, J., Landrian, I., Gao, R., Sarkar, P. S., Raskin, S., Moscovich, M., Gatto, E. M., Teive, H. A. G., Ochoa, A., Rasmussen, A., Ashizawa, T.
|
|
<strong>Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.</strong>
|
|
Europ. J. Hum. Genet. 21: 1272-1276, 2013.
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|
[PubMed: 23443018]
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[Full Text: https://doi.org/10.1038/ejhg.2013.32]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Rasmussen, A., Matsuura, T., Ruano, L., Yescas, P., Ochoa, A., Ashizawa, T., Alonso, E.
|
|
<strong>Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.</strong>
|
|
Ann. Neurol. 50: 234-239, 2001.
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|
|
[PubMed: 11506407]
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[Full Text: https://doi.org/10.1002/ana.1081]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Wakamiya, M., Matsuura, T., Liu, Y., Schuster, G. C., Gao, R., Xu, W., Sarkar, P. S., Lin, X., Ashizawa, T.
|
|
<strong>The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10.</strong>
|
|
Neurology 67: 607-613, 2006.
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|
|
[PubMed: 16924013]
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[Full Text: https://doi.org/10.1212/01.wnl.0000231140.26253.eb]
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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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Cassandra L. Kniffin - updated : 12/5/2013<br>Cassandra L. Kniffin - updated : 8/2/2007
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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>
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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 : 6/28/2007
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</span>
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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>
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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 : 11/27/2024<br>alopez : 10/31/2019<br>carol : 12/13/2013<br>ckniffin : 12/5/2013<br>wwang : 8/20/2007<br>ckniffin : 8/2/2007<br>carol : 6/29/2007<br>carol : 6/29/2007<br>ckniffin : 6/29/2007<br>ckniffin : 6/29/2007
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