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Entry
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- *605978 - VACUOLAR PROTEIN SORTING 13 HOMOLOG A; VPS13A
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- OMIM
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<p>
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<span class="h4">*605978</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605978">Table View</a>
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<a href="#references"><strong>References</strong></a>
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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>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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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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<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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<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=ENSG00000197969;t=ENST00000360280" 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=23230" 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=605978" 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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<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=ENSG00000197969;t=ENST00000360280" 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_001018037,NM_001018038,NM_015186,NM_033305" 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_033305" 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=605978" 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=05814&isoform_id=05814_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/VPS13A" 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/4589616,10434665,14289183,14388939,15619008,18088268,27697156,42406423,42454404,66346672,66346674,66346676,71152975,119583001,119583002,119583003,119583004,119583005,119583006,193784840" 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/Q96RL7" 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 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=23230" 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=ENSG00000197969;t=ENST00000360280" 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=VPS13A" 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=VPS13A" 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+23230" 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/VPS13A" 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:23230" 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/23230" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr9&hgg_gene=ENST00000360280.8&hgg_start=77177534&hgg_end=77421537&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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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1908" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/vps13a" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605978[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=605978[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/VPS13A/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/ENSG00000197969" 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=VPS13A" 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=VPS13A" 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=VPS13A" 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=VPS13A&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/PA26444" 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:1908" 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/FBgn0033194.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:2444304" 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/VPS13A#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:2444304" 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/23230/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=23230" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00011629;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030926-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=VPS13A&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> 66881004<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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605978
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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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VACUOLAR PROTEIN SORTING 13 HOMOLOG A; VPS13A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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|
<span class="mim-font">
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VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, A<br />
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CHAC GENE; CHAC<br />
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CHOREIN<br />
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KIAA0986
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=VPS13A" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">VPS13A</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/9/257?start=-3&limit=10&highlight=257">9q21.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:77177534-77421537&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">9:77,177,534-77,421,537</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
<a href="/geneMap/9/257?start=-3&limit=10&highlight=257">
|
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9q21.2
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Choreoacanthocytosis
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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/200150"> 200150 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/605978" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/605978" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<p>In the choreoacanthocytosis (<a href="/entry/200150">200150</a>) critical region on chromosome 9q, <a href="#4" class="mim-tip-reference" title="Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Brown, R., Vance, J., Pericak-Vance, M., Rudolf, G., Carre, S., Alonso, E., Manfredi, M., Nemeth, A. H., Monaco, A. P. <strong>A conserved sorting-associated protein is mutant in chorea-acanthocytosis.</strong> Nature Genet. 28: 119-120, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381253</a>] [<a href="https://doi.org/10.1038/88821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381253">Rampoldi et al. (2001)</a> identified the VPS13A gene, which they called CHAC. They identified 2 splice variants: transcript A, which contains exons 1 to 68 and 70 to 73 and encodes a 3,174-amino acid protein, and transcript B, which contains exons 1 to 69 and encodes a 3,095-amino acid protein. Northern blot analysis detected 2 bands of high molecular mass corresponding to the 2 splice variants in all tissues analyzed. Additionally, RT-PCR detected expression in the erythrocyte precursor cell line K562. <a href="#4" class="mim-tip-reference" title="Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Brown, R., Vance, J., Pericak-Vance, M., Rudolf, G., Carre, S., Alonso, E., Manfredi, M., Nemeth, A. H., Monaco, A. P. <strong>A conserved sorting-associated protein is mutant in chorea-acanthocytosis.</strong> Nature Genet. 28: 119-120, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381253</a>] [<a href="https://doi.org/10.1038/88821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381253">Rampoldi et al. (2001)</a> showed that the CHAC gene encodes an evolutionarily conserved protein, which may be involved in protein sorting. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381253" 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>Independently, <a href="#8" class="mim-tip-reference" title="Ueno, S., Maruki, Y., Nakamura, M., Tomemori, Y., Kamae, K., Tanabe, H., Yamashita, Y., Matsuda, S., Kaneko, S., Sano, A. <strong>The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.</strong> Nature Genet. 28: 121-122, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381254</a>] [<a href="https://doi.org/10.1038/88825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381254">Ueno et al. (2001)</a> identified the VPS13A gene and found that it encodes a 3,096-amino acid protein, which they termed chorein. Northern blot analysis detected a 10-kb transcript in brain, heart, skeletal muscle, and kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381254" 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 EST database analysis and RT-PCR of lymphoid cell line and brain RNA, <a href="#9" class="mim-tip-reference" title="Velayos-Baeza, A., Vettori, A., Copley, R. R., Dobson-Stone, C., Monaco, A. P. <strong>Analysis of the human VPS13 gene family.</strong> Genomics 84: 536-549, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15498460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15498460</a>] [<a href="https://doi.org/10.1016/j.ygeno.2004.04.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15498460">Velayos-Baeza et al. (2004)</a> identified several additional splice variants of VPS13A generated by exon skipping or utilization of alternative internal exons. Northern blot analysis and RT-PCR detected VPS13A expression at variable levels in all tissues examined, and transcript encoding the 3,174-amino acid protein was the major variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15498460" 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="Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Brown, R., Vance, J., Pericak-Vance, M., Rudolf, G., Carre, S., Alonso, E., Manfredi, M., Nemeth, A. H., Monaco, A. P. <strong>A conserved sorting-associated protein is mutant in chorea-acanthocytosis.</strong> Nature Genet. 28: 119-120, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381253</a>] [<a href="https://doi.org/10.1038/88821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381253">Rampoldi et al. (2001)</a> determined that the VPS13A gene contains 73 exons and spans 250 kb. <a href="#9" class="mim-tip-reference" title="Velayos-Baeza, A., Vettori, A., Copley, R. R., Dobson-Stone, C., Monaco, A. P. <strong>Analysis of the human VPS13 gene family.</strong> Genomics 84: 536-549, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15498460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15498460</a>] [<a href="https://doi.org/10.1016/j.ygeno.2004.04.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15498460">Velayos-Baeza et al. (2004)</a> identified 5 additional alternative exons in the VPS13A gene, exons 7b, 31b, 34b, 68b, and 69b, but 3 of these, exons 31b, 34b, and 69b, have stop codons in all 3 reading frames. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11381253+15498460" 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="Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Brown, R., Vance, J., Pericak-Vance, M., Rudolf, G., Carre, S., Alonso, E., Manfredi, M., Nemeth, A. H., Monaco, A. P. <strong>A conserved sorting-associated protein is mutant in chorea-acanthocytosis.</strong> Nature Genet. 28: 119-120, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381253</a>] [<a href="https://doi.org/10.1038/88821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381253">Rampoldi et al. (2001)</a> mapped the VPS13A gene to chromosome 9q21-q22. <a href="#9" class="mim-tip-reference" title="Velayos-Baeza, A., Vettori, A., Copley, R. R., Dobson-Stone, C., Monaco, A. P. <strong>Analysis of the human VPS13 gene family.</strong> Genomics 84: 536-549, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15498460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15498460</a>] [<a href="https://doi.org/10.1016/j.ygeno.2004.04.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15498460">Velayos-Baeza et al. (2004)</a> mapped the mouse Vps13a gene to chromosome 19A. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11381253+15498460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 11 families with choreoacanthocytosis (CHAC; <a href="/entry/200150">200150</a>), <a href="#4" class="mim-tip-reference" title="Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Brown, R., Vance, J., Pericak-Vance, M., Rudolf, G., Carre, S., Alonso, E., Manfredi, M., Nemeth, A. H., Monaco, A. P. <strong>A conserved sorting-associated protein is mutant in chorea-acanthocytosis.</strong> Nature Genet. 28: 119-120, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381253</a>] [<a href="https://doi.org/10.1038/88821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381253">Rampoldi et al. (2001)</a> identified 16 different mutations in the VPS13A gene (see, e.g., <a href="#0001">605978.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381253" 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 4 affected patients from 3 Japanese pedigrees with choreoacanthocytosis, <a href="#8" class="mim-tip-reference" title="Ueno, S., Maruki, Y., Nakamura, M., Tomemori, Y., Kamae, K., Tanabe, H., Yamashita, Y., Matsuda, S., Kaneko, S., Sano, A. <strong>The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.</strong> Nature Genet. 28: 121-122, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381254</a>] [<a href="https://doi.org/10.1038/88825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381254">Ueno et al. (2001)</a> identified a homozygous deletion in the coding region of the VPS13A gene (<a href="#0003">605978.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381254" 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>Among 43 patients with choreoacanthocytosis, <a href="#1" class="mim-tip-reference" title="Dobson-Stone, C., Danek, A., Rampoldi, L., Hardie, R. J., Chalmers, R. M., Wood, N. W., Bohlega, S., Dotti, M. T., Federico, A., Shizuka, M., Tanaka, M., Watanabe, M., and 32 others. <strong>Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.</strong> Europ. J. Hum. Genet. 10: 773-781, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12404112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12404112</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200866" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12404112">Dobson-Stone et al. (2002)</a> identified 57 different mutations distributed throughout the CHAC gene (see, e.g., <a href="#0004">605978.0004</a>). In 7 patients, only 1 heterozygous mutation was found; in 4 patients, no disease mutations were found. The authors noted that small gene deletions or rearrangements may not have been detected in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12404112" 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="Dobson-Stone, C., Velayos-Baeza, A., Jansen, A., Andermann, F., Dubeau, F., Robert, F., Summers, A., Lang, A. E., Chouinard, S., Danek, A., Andermann, E., Monaco, A. P. <strong>Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.</strong> Neurogenetics 6: 151-158, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15918062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15918062</a>] [<a href="https://doi.org/10.1007/s10048-005-0220-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15918062">Dobson-Stone et al. (2005)</a> stated that 75 different mutations in the VPS13A gene had been identified in 58 probands with choreoacanthocytosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15918062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605978[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<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> rs119477052 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119477052;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/rs119477052?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=rs119477052" 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=rs119477052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with choreoacanthocytosis (CHAC; <a href="/entry/200150">200150</a>), <a href="#4" class="mim-tip-reference" title="Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Brown, R., Vance, J., Pericak-Vance, M., Rudolf, G., Carre, S., Alonso, E., Manfredi, M., Nemeth, A. H., Monaco, A. P. <strong>A conserved sorting-associated protein is mutant in chorea-acanthocytosis.</strong> Nature Genet. 28: 119-120, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381253</a>] [<a href="https://doi.org/10.1038/88821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381253">Rampoldi et al. (2001)</a> found compound heterozygosity for a 269T-A transversion in exon 4 of the VPS13A gene and an insertion of a T between nucleotides 6404 and 6405 in exon 48. The mutations resulted in an ile90-to-lys (I90K) amino acid change and a frameshift, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs951347128 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs951347128;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs951347128" 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=rs951347128" 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=RCV000004947 OR RCV001236468" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004947, RCV001236468" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004947...</a>
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<p>See <a href="#0001">605978.0001</a> and <a href="#4" class="mim-tip-reference" title="Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Brown, R., Vance, J., Pericak-Vance, M., Rudolf, G., Carre, S., Alonso, E., Manfredi, M., Nemeth, A. H., Monaco, A. P. <strong>A conserved sorting-associated protein is mutant in chorea-acanthocytosis.</strong> Nature Genet. 28: 119-120, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381253</a>] [<a href="https://doi.org/10.1038/88821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381253">Rampoldi et al. (2001)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381253" 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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VPS13A, 260-BP DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004948" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004948" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004948</a>
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<p>In affected members of 3 Japanese families with choreoacanthocytosis (CHAC; <a href="/entry/200150">200150</a>), <a href="#8" class="mim-tip-reference" title="Ueno, S., Maruki, Y., Nakamura, M., Tomemori, Y., Kamae, K., Tanabe, H., Yamashita, Y., Matsuda, S., Kaneko, S., Sano, A. <strong>The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.</strong> Nature Genet. 28: 121-122, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381254</a>] [<a href="https://doi.org/10.1038/88825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381254">Ueno et al. (2001)</a> identified a homozygous 260-bp deletion in the VPS13A gene, leading to a truncated protein. The families originated from a small area in Japan, and haplotype analysis indicated a founder effect. Some of the patients' parents, who were heterozygous for the mutation, showed a slight degree of acanthocytosis in peripheral blood but no distinct neurologic abnormalities except for cryptogenic abducens palsy in 1 parent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs119477053 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119477053;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/rs119477053?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=rs119477053" 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=rs119477053" 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=RCV000004949 OR RCV002512780" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004949, RCV002512780" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004949...</a>
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<p>In 3 patients with choreoacanthocytosis, <a href="#1" class="mim-tip-reference" title="Dobson-Stone, C., Danek, A., Rampoldi, L., Hardie, R. J., Chalmers, R. M., Wood, N. W., Bohlega, S., Dotti, M. T., Federico, A., Shizuka, M., Tanaka, M., Watanabe, M., and 32 others. <strong>Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.</strong> Europ. J. Hum. Genet. 10: 773-781, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12404112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12404112</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200866" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12404112">Dobson-Stone et al. (2002)</a> identified a 622C-T change in exon 9 of the CHAC gene, resulting in an arg208-to-ter nonsense substitution (R208X). One patient was homozygous for the mutation and 2 others were compound heterozygous for R208X and another CHAC mutation. The R208X mutation had previously been reported by <a href="#4" class="mim-tip-reference" title="Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Brown, R., Vance, J., Pericak-Vance, M., Rudolf, G., Carre, S., Alonso, E., Manfredi, M., Nemeth, A. H., Monaco, A. P. <strong>A conserved sorting-associated protein is mutant in chorea-acanthocytosis.</strong> Nature Genet. 28: 119-120, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381253</a>] [<a href="https://doi.org/10.1038/88821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381253">Rampoldi et al. (2001)</a> in a family with choreoacanthocytosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11381253+12404112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1587653832 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1587653832;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1587653832" 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=rs1587653832" 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=RCV000004950" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004950" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004950</a>
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<p>In 2 affected sibs from a Japanese family with choreoacanthocytosis (CHAC; <a href="/entry/200150">200150</a>) with apparent autosomal dominant inheritance, <a href="#6" class="mim-tip-reference" title="Saiki, S., Sakai, K., Kitagawa, Y., Saiki, M., Kataoka, S., Hirose, G. <strong>Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.</strong> Neurology 61: 1614-1616, 2003. Note: Erratum: Neurology 77: 701 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14663054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14663054</a>] [<a href="https://doi.org/10.1212/01.wnl.0000096172.26601.02" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14663054">Saiki et al. (2003)</a> identified a heterozygous G-to-A transition at the last nucleotide of exon 57 of the CHAC gene, predicted to induce skipping of exon 57 and premature termination of the protein. The mutation was not detected in their unaffected mother. Family history revealed that 3 other living family members were affected and 2 deceased members were believed to be affected. All 5 living affected members showed acanthocytosis (approximately 15-20%) and involuntary movements. In an erratum, the authors stated that an error in sequencing had occurred and the inheritance pattern should have been reported as autosomal recessive (pseudodominant). <a href="#7" class="mim-tip-reference" title="Tomiyasu, A., Nakamura, M., Ichiba, M., Ueno, S., Saiki, S., Morimoto, M., Kobal, J., Kageyama, Y., Inui, T., Wakabayashi, K., Yamada, T., Kanemori, Y., and 22 others. <strong>Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.</strong> Am. J. Med. Genet. 156B: 620-631, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21598378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21598378</a>] [<a href="https://doi.org/10.1002/ajmg.b.31206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21598378">Tomiyasu et al. (2011)</a> identified the 2 mutations in the VPS13A gene in this family: an 8035G-A transition in exon 57, causing a frameshift and premature termination (Ile2652HisfsTer12), and a 1305G-A transition in exon 15, resulting in a trp435-to-ter (W435X; <a href="#0010">605978.0010</a>) substitution; the latter mutation was also identified in the unaffected mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14663054+21598378" 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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VPS13A, 1-BP DEL, 6059C
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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> rs781242821 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs781242821;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/rs781242821?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=rs781242821" 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=rs781242821" 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=RCV001040570 OR RCV001827241" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001040570, RCV001827241" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001040570...</a>
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<p>In 2 unrelated males of Ashkenazi Jewish descent with choreoacanthocytosis (CHAC; <a href="/entry/200150">200150</a>), <a href="#3" class="mim-tip-reference" title="Lossos, A., Dobson-Stone, C., Monaco, A. P., Soffer, D., Rahamim, E., Newman, J. P., Mohiddin, S., Fananapazir, L., Lerer, I., Linetsky, E., Reches, A., Argov, Z., Abramsky, O., Gadoth, N., Sadeh, M., Gomori, J. M., Boher, M., Meiner, V. <strong>Early clinical heterogeneity in choreoacanthocytosis.</strong> Arch. Neurol. 62: 611-614, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15824261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15824261</a>] [<a href="https://doi.org/10.1001/archneur.62.4.611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15824261">Lossos et al. (2005)</a> identified a homozygous 1-bp deletion (6059delC) in exon 46 of the VPS13A gene, predicted to result in premature termination of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15824261" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 CHOREOACANTHOCYTOSIS</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004952" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004952" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004952</a>
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<p>In an Iraqi Jewish woman with choreoacanthocytosis (CHAC; <a href="/entry/200150">200150</a>), <a href="#3" class="mim-tip-reference" title="Lossos, A., Dobson-Stone, C., Monaco, A. P., Soffer, D., Rahamim, E., Newman, J. P., Mohiddin, S., Fananapazir, L., Lerer, I., Linetsky, E., Reches, A., Argov, Z., Abramsky, O., Gadoth, N., Sadeh, M., Gomori, J. M., Boher, M., Meiner, V. <strong>Early clinical heterogeneity in choreoacanthocytosis.</strong> Arch. Neurol. 62: 611-614, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15824261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15824261</a>] [<a href="https://doi.org/10.1001/archneur.62.4.611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15824261">Lossos et al. (2005)</a> identified a homozygous 7-kb deletion spanning exon 23 of the VPS13A gene. She had trichotillomania and anxiety but little neuromuscular involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15824261" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004953" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004953" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004953</a>
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<p>In affected members of 3 French Canadian families with choreoacanthocytosis (CHAC; <a href="/entry/200150">200150</a>), <a href="#2" class="mim-tip-reference" title="Dobson-Stone, C., Velayos-Baeza, A., Jansen, A., Andermann, F., Dubeau, F., Robert, F., Summers, A., Lang, A. E., Chouinard, S., Danek, A., Andermann, E., Monaco, A. P. <strong>Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.</strong> Neurogenetics 6: 151-158, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15918062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15918062</a>] [<a href="https://doi.org/10.1007/s10048-005-0220-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15918062">Dobson-Stone et al. (2005)</a> identified a homozygous 37-kb deletion in the VPS13A gene, resulting in the deletion of exons 70 through 73. The deletion also encompassed the 2 terminal exons of the neighboring GNA14 gene (<a href="/entry/604397">604397</a>). Haplotype analysis indicated a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15918062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs779746050 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs779746050;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/rs779746050?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=rs779746050" 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=rs779746050" 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=RCV000809886 OR RCV001276369" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000809886, RCV001276369" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000809886...</a>
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<p>In 2 Mexican mestizo sisters, born of consanguineous parents, with choreoacanthocytosis (CHAC; <a href="/entry/200150">200150</a>), <a href="#5" class="mim-tip-reference" title="Ruiz-Sandoval, J. L., Garcia-Navarro, V., Chiquete, E., Dobson-Stone, C., Monaco, A. P., Alvarez-Palazuelos, L. E., Padilla-Martinez, J. J., Barrera-Chairez, E., Rodriguez-Figueroa, E. I., Perez-Garcia, G. <strong>Choreoacanthocytosis in a Mexican family.</strong> Arch. Neurol. 64: 1661-1664, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17998451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17998451</a>] [<a href="https://doi.org/10.1001/archneur.64.11.1661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17998451">Ruiz-Sandoval et al. (2007)</a> identified a homozygous 2-bp duplication (3556dupAC) in exon 33 of the VPS13A gene, resulting in a frameshift and premature termination. The proband had onset at age 32 years and showed severe progression of the disorder; at age 42, she was emaciated, anarthric, and reactive only to simple commands. In contrast, her sister had onset at age 45 years and primarily showed motor and verbal tics, paranoid behavior, and depression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17998451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 CHOREOACANTHOCYTOSIS</strong>
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VPS13A, TRP435TER
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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> rs761923202 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs761923202;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/rs761923202?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=rs761923202" 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=rs761923202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030800" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030800" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030800</a>
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<p>For discussion of the 1305G-A transition in exon 15 of the VPS13A gene, resulting in a trp435-to-ter (W435X) substitution, that was found in compound heterozygous state in 2 affected sibs from a Japanese family with choreoacanthocytosis (CHAC; <a href="/entry/200150">200150</a>) by <a href="#7" class="mim-tip-reference" title="Tomiyasu, A., Nakamura, M., Ichiba, M., Ueno, S., Saiki, S., Morimoto, M., Kobal, J., Kageyama, Y., Inui, T., Wakabayashi, K., Yamada, T., Kanemori, Y., and 22 others. <strong>Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.</strong> Am. J. Med. Genet. 156B: 620-631, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21598378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21598378</a>] [<a href="https://doi.org/10.1002/ajmg.b.31206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21598378">Tomiyasu et al. (2011)</a>, see <a href="#0005">605978.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21598378" 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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Dobson-Stone, C., Danek, A., Rampoldi, L., Hardie, R. J., Chalmers, R. M., Wood, N. W., Bohlega, S., Dotti, M. T., Federico, A., Shizuka, M., Tanaka, M., Watanabe, M., and 32 others.
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<strong>Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.</strong>
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Europ. J. Hum. Genet. 10: 773-781, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12404112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12404112</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12404112" 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/sj.ejhg.5200866" target="_blank">Full Text</a>]
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Dobson-Stone, C., Velayos-Baeza, A., Jansen, A., Andermann, F., Dubeau, F., Robert, F., Summers, A., Lang, A. E., Chouinard, S., Danek, A., Andermann, E., Monaco, A. P.
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<strong>Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.</strong>
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Neurogenetics 6: 151-158, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15918062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15918062</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15918062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10048-005-0220-9" target="_blank">Full Text</a>]
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Lossos, A., Dobson-Stone, C., Monaco, A. P., Soffer, D., Rahamim, E., Newman, J. P., Mohiddin, S., Fananapazir, L., Lerer, I., Linetsky, E., Reches, A., Argov, Z., Abramsky, O., Gadoth, N., Sadeh, M., Gomori, J. M., Boher, M., Meiner, V.
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<strong>Early clinical heterogeneity in choreoacanthocytosis.</strong>
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Arch. Neurol. 62: 611-614, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15824261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15824261</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15824261" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.62.4.611" target="_blank">Full Text</a>]
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Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Brown, R., Vance, J., Pericak-Vance, M., Rudolf, G., Carre, S., Alonso, E., Manfredi, M., Nemeth, A. H., Monaco, A. P.
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<strong>A conserved sorting-associated protein is mutant in chorea-acanthocytosis.</strong>
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Nature Genet. 28: 119-120, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381253</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381253" 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/10.1038/88821" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Ruiz-Sandoval2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ruiz-Sandoval, J. L., Garcia-Navarro, V., Chiquete, E., Dobson-Stone, C., Monaco, A. P., Alvarez-Palazuelos, L. E., Padilla-Martinez, J. J., Barrera-Chairez, E., Rodriguez-Figueroa, E. I., Perez-Garcia, G.
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|
<strong>Choreoacanthocytosis in a Mexican family.</strong>
|
|
Arch. Neurol. 64: 1661-1664, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17998451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17998451</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17998451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.64.11.1661" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Saiki2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Saiki, S., Sakai, K., Kitagawa, Y., Saiki, M., Kataoka, S., Hirose, G.
|
|
<strong>Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.</strong>
|
|
Neurology 61: 1614-1616, 2003. Note: Erratum: Neurology 77: 701 only, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14663054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14663054</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14663054" 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.0000096172.26601.02" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Tomiyasu2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tomiyasu, A., Nakamura, M., Ichiba, M., Ueno, S., Saiki, S., Morimoto, M., Kobal, J., Kageyama, Y., Inui, T., Wakabayashi, K., Yamada, T., Kanemori, Y., and 22 others.
|
|
<strong>Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.</strong>
|
|
Am. J. Med. Genet. 156B: 620-631, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21598378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21598378</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21598378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.b.31206" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Ueno2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ueno, S., Maruki, Y., Nakamura, M., Tomemori, Y., Kamae, K., Tanabe, H., Yamashita, Y., Matsuda, S., Kaneko, S., Sano, A.
|
|
<strong>The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.</strong>
|
|
Nature Genet. 28: 121-122, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381254" 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/10.1038/88825" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Velayos-Baeza2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Velayos-Baeza, A., Vettori, A., Copley, R. R., Dobson-Stone, C., Monaco, A. P.
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<strong>Analysis of the human VPS13 gene family.</strong>
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Genomics 84: 536-549, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15498460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15498460</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15498460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ygeno.2004.04.012" target="_blank">Full Text</a>]
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 10/1/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/10/2008<br>Cassandra L. Kniffin - updated : 11/9/2005<br>Cassandra L. Kniffin - updated : 8/18/2005<br>Patricia A. Hartz - updated : 8/26/2004<br>Cassandra L. Kniffin - updated : 3/2/2004
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 5/29/2001
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/25/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/18/2019<br>carol : 12/17/2019<br>carol : 12/29/2016<br>carol : 09/06/2013<br>terry : 10/2/2012<br>terry : 10/1/2012<br>carol : 10/1/2012<br>carol : 1/6/2012<br>wwang : 4/16/2008<br>ckniffin : 4/10/2008<br>wwang : 11/22/2005<br>ckniffin : 11/9/2005<br>wwang : 8/19/2005<br>ckniffin : 8/18/2005<br>mgross : 8/27/2004<br>mgross : 8/27/2004<br>mgross : 8/27/2004<br>terry : 8/26/2004<br>mgross : 3/25/2004<br>carol : 3/2/2004<br>ckniffin : 3/2/2004<br>carol : 2/25/2004<br>carol : 2/25/2004<br>ckniffin : 2/3/2004<br>alopez : 5/29/2001
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 605978
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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VACUOLAR PROTEIN SORTING 13 HOMOLOG A; VPS13A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, A<br />
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CHAC GENE; CHAC<br />
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CHOREIN<br />
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KIAA0986
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: VPS13A</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> 66881004;
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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: 9q21.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:77,177,534-77,421,537 </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">
|
|
9q21.2
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
Choreoacanthocytosis
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
200150
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
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">
|
|
<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">
|
|
<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">
|
|
<p>In the choreoacanthocytosis (200150) critical region on chromosome 9q, Rampoldi et al. (2001) identified the VPS13A gene, which they called CHAC. They identified 2 splice variants: transcript A, which contains exons 1 to 68 and 70 to 73 and encodes a 3,174-amino acid protein, and transcript B, which contains exons 1 to 69 and encodes a 3,095-amino acid protein. Northern blot analysis detected 2 bands of high molecular mass corresponding to the 2 splice variants in all tissues analyzed. Additionally, RT-PCR detected expression in the erythrocyte precursor cell line K562. Rampoldi et al. (2001) showed that the CHAC gene encodes an evolutionarily conserved protein, which may be involved in protein sorting. </p><p>Independently, Ueno et al. (2001) identified the VPS13A gene and found that it encodes a 3,096-amino acid protein, which they termed chorein. Northern blot analysis detected a 10-kb transcript in brain, heart, skeletal muscle, and kidney. </p><p>By EST database analysis and RT-PCR of lymphoid cell line and brain RNA, Velayos-Baeza et al. (2004) identified several additional splice variants of VPS13A generated by exon skipping or utilization of alternative internal exons. Northern blot analysis and RT-PCR detected VPS13A expression at variable levels in all tissues examined, and transcript encoding the 3,174-amino acid protein was the major variant. </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>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Rampoldi et al. (2001) determined that the VPS13A gene contains 73 exons and spans 250 kb. Velayos-Baeza et al. (2004) identified 5 additional alternative exons in the VPS13A gene, exons 7b, 31b, 34b, 68b, and 69b, but 3 of these, exons 31b, 34b, and 69b, have stop codons in all 3 reading frames. </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>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Rampoldi et al. (2001) mapped the VPS13A gene to chromosome 9q21-q22. Velayos-Baeza et al. (2004) mapped the mouse Vps13a gene to chromosome 19A. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>In affected members of 11 families with choreoacanthocytosis (CHAC; 200150), Rampoldi et al. (2001) identified 16 different mutations in the VPS13A gene (see, e.g., 605978.0001). </p><p>In 4 affected patients from 3 Japanese pedigrees with choreoacanthocytosis, Ueno et al. (2001) identified a homozygous deletion in the coding region of the VPS13A gene (605978.0003). </p><p>Among 43 patients with choreoacanthocytosis, Dobson-Stone et al. (2002) identified 57 different mutations distributed throughout the CHAC gene (see, e.g., 605978.0004). In 7 patients, only 1 heterozygous mutation was found; in 4 patients, no disease mutations were found. The authors noted that small gene deletions or rearrangements may not have been detected in these patients. </p><p>Dobson-Stone et al. (2005) stated that 75 different mutations in the VPS13A gene had been identified in 58 probands with choreoacanthocytosis. </p>
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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|
<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>10 Selected Examples):</strong>
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</span>
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|
</h4>
|
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<div>
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<p />
|
|
</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 CHOREOACANTHOCYTOSIS</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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VPS13A, ILE90LYS
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<br />
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SNP: rs119477052,
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gnomAD: rs119477052,
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ClinVar: RCV000004946
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with choreoacanthocytosis (CHAC; 200150), Rampoldi et al. (2001) found compound heterozygosity for a 269T-A transversion in exon 4 of the VPS13A gene and an insertion of a T between nucleotides 6404 and 6405 in exon 48. The mutations resulted in an ile90-to-lys (I90K) amino acid change and a frameshift, respectively. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>.0002 CHOREOACANTHOCYTOSIS</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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VPS13A, 1-BP INS, 6404T
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<br />
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SNP: rs951347128,
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ClinVar: RCV000004947, RCV001236468
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|
</span>
|
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>See 605978.0001 and Rampoldi et al. (2001). </p>
|
|
</span>
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</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CHOREOACANTHOCYTOSIS</strong>
|
|
</span>
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|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
VPS13A, 260-BP DEL
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|
<br />
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|
|
ClinVar: RCV000004948
|
|
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|
|
</span>
|
|
</div>
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 3 Japanese families with choreoacanthocytosis (CHAC; 200150), Ueno et al. (2001) identified a homozygous 260-bp deletion in the VPS13A gene, leading to a truncated protein. The families originated from a small area in Japan, and haplotype analysis indicated a founder effect. Some of the patients' parents, who were heterozygous for the mutation, showed a slight degree of acanthocytosis in peripheral blood but no distinct neurologic abnormalities except for cryptogenic abducens palsy in 1 parent. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
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|
</div>
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<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CHOREOACANTHOCYTOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
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|
VPS13A, ARG208TER
|
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|
<br />
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|
|
SNP: rs119477053,
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|
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|
|
gnomAD: rs119477053,
|
|
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|
|
|
ClinVar: RCV000004949, RCV002512780
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 patients with choreoacanthocytosis, Dobson-Stone et al. (2002) identified a 622C-T change in exon 9 of the CHAC gene, resulting in an arg208-to-ter nonsense substitution (R208X). One patient was homozygous for the mutation and 2 others were compound heterozygous for R208X and another CHAC mutation. The R208X mutation had previously been reported by Rampoldi et al. (2001) in a family with choreoacanthocytosis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CHOREOACANTHOCYTOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
VPS13A, 8035G-A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1587653832,
|
|
|
|
|
|
|
|
ClinVar: RCV000004950
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 affected sibs from a Japanese family with choreoacanthocytosis (CHAC; 200150) with apparent autosomal dominant inheritance, Saiki et al. (2003) identified a heterozygous G-to-A transition at the last nucleotide of exon 57 of the CHAC gene, predicted to induce skipping of exon 57 and premature termination of the protein. The mutation was not detected in their unaffected mother. Family history revealed that 3 other living family members were affected and 2 deceased members were believed to be affected. All 5 living affected members showed acanthocytosis (approximately 15-20%) and involuntary movements. In an erratum, the authors stated that an error in sequencing had occurred and the inheritance pattern should have been reported as autosomal recessive (pseudodominant). Tomiyasu et al. (2011) identified the 2 mutations in the VPS13A gene in this family: an 8035G-A transition in exon 57, causing a frameshift and premature termination (Ile2652HisfsTer12), and a 1305G-A transition in exon 15, resulting in a trp435-to-ter (W435X; 605978.0010) substitution; the latter mutation was also identified in the unaffected mother. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CHOREOACANTHOCYTOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
VPS13A, 1-BP DEL, 6059C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs781242821,
|
|
|
|
|
|
gnomAD: rs781242821,
|
|
|
|
|
|
ClinVar: RCV001040570, RCV001827241
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated males of Ashkenazi Jewish descent with choreoacanthocytosis (CHAC; 200150), Lossos et al. (2005) identified a homozygous 1-bp deletion (6059delC) in exon 46 of the VPS13A gene, predicted to result in premature termination of the protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CHOREOACANTHOCYTOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
VPS13A, 7-KB DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000004952
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Iraqi Jewish woman with choreoacanthocytosis (CHAC; 200150), Lossos et al. (2005) identified a homozygous 7-kb deletion spanning exon 23 of the VPS13A gene. She had trichotillomania and anxiety but little neuromuscular involvement. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CHOREOACANTHOCYTOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
VPS13A, 37-KB DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000004953
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 3 French Canadian families with choreoacanthocytosis (CHAC; 200150), Dobson-Stone et al. (2005) identified a homozygous 37-kb deletion in the VPS13A gene, resulting in the deletion of exons 70 through 73. The deletion also encompassed the 2 terminal exons of the neighboring GNA14 gene (604397). Haplotype analysis indicated a founder effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 CHOREOACANTHOCYTOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
VPS13A, 2-BP DUP, 3556AC
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs779746050,
|
|
|
|
|
|
gnomAD: rs779746050,
|
|
|
|
|
|
ClinVar: RCV000809886, RCV001276369
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Mexican mestizo sisters, born of consanguineous parents, with choreoacanthocytosis (CHAC; 200150), Ruiz-Sandoval et al. (2007) identified a homozygous 2-bp duplication (3556dupAC) in exon 33 of the VPS13A gene, resulting in a frameshift and premature termination. The proband had onset at age 32 years and showed severe progression of the disorder; at age 42, she was emaciated, anarthric, and reactive only to simple commands. In contrast, her sister had onset at age 45 years and primarily showed motor and verbal tics, paranoid behavior, and depression. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 CHOREOACANTHOCYTOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
VPS13A, TRP435TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs761923202,
|
|
|
|
|
|
gnomAD: rs761923202,
|
|
|
|
|
|
ClinVar: RCV000030800
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1305G-A transition in exon 15 of the VPS13A gene, resulting in a trp435-to-ter (W435X) substitution, that was found in compound heterozygous state in 2 affected sibs from a Japanese family with choreoacanthocytosis (CHAC; 200150) by Tomiyasu et al. (2011), see 605978.0005. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
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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">
|
|
Dobson-Stone, C., Danek, A., Rampoldi, L., Hardie, R. J., Chalmers, R. M., Wood, N. W., Bohlega, S., Dotti, M. T., Federico, A., Shizuka, M., Tanaka, M., Watanabe, M., and 32 others.
|
|
<strong>Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.</strong>
|
|
Europ. J. Hum. Genet. 10: 773-781, 2002.
|
|
|
|
|
|
[PubMed: 12404112]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200866]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dobson-Stone, C., Velayos-Baeza, A., Jansen, A., Andermann, F., Dubeau, F., Robert, F., Summers, A., Lang, A. E., Chouinard, S., Danek, A., Andermann, E., Monaco, A. P.
|
|
<strong>Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.</strong>
|
|
Neurogenetics 6: 151-158, 2005.
|
|
|
|
|
|
[PubMed: 15918062]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s10048-005-0220-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lossos, A., Dobson-Stone, C., Monaco, A. P., Soffer, D., Rahamim, E., Newman, J. P., Mohiddin, S., Fananapazir, L., Lerer, I., Linetsky, E., Reches, A., Argov, Z., Abramsky, O., Gadoth, N., Sadeh, M., Gomori, J. M., Boher, M., Meiner, V.
|
|
<strong>Early clinical heterogeneity in choreoacanthocytosis.</strong>
|
|
Arch. Neurol. 62: 611-614, 2005.
|
|
|
|
|
|
[PubMed: 15824261]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.62.4.611]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Brown, R., Vance, J., Pericak-Vance, M., Rudolf, G., Carre, S., Alonso, E., Manfredi, M., Nemeth, A. H., Monaco, A. P.
|
|
<strong>A conserved sorting-associated protein is mutant in chorea-acanthocytosis.</strong>
|
|
Nature Genet. 28: 119-120, 2001.
|
|
|
|
|
|
[PubMed: 11381253]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/88821]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ruiz-Sandoval, J. L., Garcia-Navarro, V., Chiquete, E., Dobson-Stone, C., Monaco, A. P., Alvarez-Palazuelos, L. E., Padilla-Martinez, J. J., Barrera-Chairez, E., Rodriguez-Figueroa, E. I., Perez-Garcia, G.
|
|
<strong>Choreoacanthocytosis in a Mexican family.</strong>
|
|
Arch. Neurol. 64: 1661-1664, 2007.
|
|
|
|
|
|
[PubMed: 17998451]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.64.11.1661]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Saiki, S., Sakai, K., Kitagawa, Y., Saiki, M., Kataoka, S., Hirose, G.
|
|
<strong>Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.</strong>
|
|
Neurology 61: 1614-1616, 2003. Note: Erratum: Neurology 77: 701 only, 2011.
|
|
|
|
|
|
[PubMed: 14663054]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000096172.26601.02]
|
|
|
|
|
|
</p>
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Tomiyasu, A., Nakamura, M., Ichiba, M., Ueno, S., Saiki, S., Morimoto, M., Kobal, J., Kageyama, Y., Inui, T., Wakabayashi, K., Yamada, T., Kanemori, Y., and 22 others.
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<strong>Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.</strong>
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Am. J. Med. Genet. 156B: 620-631, 2011.
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[PubMed: 21598378]
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[Full Text: https://doi.org/10.1002/ajmg.b.31206]
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Ueno, S., Maruki, Y., Nakamura, M., Tomemori, Y., Kamae, K., Tanabe, H., Yamashita, Y., Matsuda, S., Kaneko, S., Sano, A.
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<strong>The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.</strong>
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Nature Genet. 28: 121-122, 2001.
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[PubMed: 11381254]
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[Full Text: https://doi.org/10.1038/88825]
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Velayos-Baeza, A., Vettori, A., Copley, R. R., Dobson-Stone, C., Monaco, A. P.
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<strong>Analysis of the human VPS13 gene family.</strong>
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Genomics 84: 536-549, 2004.
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[PubMed: 15498460]
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[Full Text: https://doi.org/10.1016/j.ygeno.2004.04.012]
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Carol A. Bocchini - updated : 10/1/2012<br>Cassandra L. Kniffin - updated : 4/10/2008<br>Cassandra L. Kniffin - updated : 11/9/2005<br>Cassandra L. Kniffin - updated : 8/18/2005<br>Patricia A. Hartz - updated : 8/26/2004<br>Cassandra L. Kniffin - updated : 3/2/2004
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Victor A. McKusick : 5/29/2001
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carol : 09/25/2022<br>carol : 12/18/2019<br>carol : 12/17/2019<br>carol : 12/29/2016<br>carol : 09/06/2013<br>terry : 10/2/2012<br>terry : 10/1/2012<br>carol : 10/1/2012<br>carol : 1/6/2012<br>wwang : 4/16/2008<br>ckniffin : 4/10/2008<br>wwang : 11/22/2005<br>ckniffin : 11/9/2005<br>wwang : 8/19/2005<br>ckniffin : 8/18/2005<br>mgross : 8/27/2004<br>mgross : 8/27/2004<br>mgross : 8/27/2004<br>terry : 8/26/2004<br>mgross : 3/25/2004<br>carol : 3/2/2004<br>ckniffin : 3/2/2004<br>carol : 2/25/2004<br>carol : 2/25/2004<br>ckniffin : 2/3/2004<br>alopez : 5/29/2001
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