2198 lines
126 KiB
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- *590020 - TRANSFER RNA, MITOCHONDRIAL, CYSTEINE; MTTC
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- OMIM
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<p>
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<span class="h4">*590020</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="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<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/590020">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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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000210140;t=-" 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://mitomap.org/bin/view.pl/Main/SearchSite?search=MT-TC" class="mim-tip-hint" title="A curated repository of published and unpublished data on human mitochondrial DNA variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MITOMAP', 'domain': 'mitomap.org'})">MITOMAP</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=4511" 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=590020" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<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><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000210140;t=-" 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</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=590020" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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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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<div><a href="https://www.proteinatlas.org/search/MT-TC" 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 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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</a>
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<div><a href="http://biogps.org/#goto=genereport&id=4511" 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=ENSG00000210140;t=-" 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=MT-TC" 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=MT-TC" 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+4511" 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/MT-TC" 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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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4511" 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>
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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/genes/HGNC:7477" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=590020[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 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=590020[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000210140" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=MT-TC" 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=MT-TC" 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=MT-TC&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/PA31280" 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 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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</a>
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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:7477" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:102490" 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/MT-TC#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:102490" 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/4511/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=4511" 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 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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</a>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4511" 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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<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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<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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<a id="title" class="mim-anchor"></a>
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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> 39925003<br />
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<strong>ICD10CM:</strong> E88.41<br />
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">ICD+</a>
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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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590020
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</span>
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</span>
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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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TRANSFER RNA, MITOCHONDRIAL, CYSTEINE; MTTC
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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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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<h4>
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<span class="mim-font">
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tRNA-CYS, MITOCHONDRIAL
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</h4>
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<br />
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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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=MT-TC" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MT-TC</a></em></strong>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>The mitochondrial tRNA for cysteine is encoded by nucleotides 5761-5826.</p>
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<br />
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<a id="molecularGenetics" class="mim-anchor"></a>
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<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p><a href="#1" class="mim-tip-reference" title="Manfredi, G., Schon, E. A., Bonilla, E., Moraes, C. T., Shanske, S., DiMauro, S. <strong>Identification of a mutation in the mitochondrial tRNA-cys gene associated with mitochondrial encephalopathy.</strong> Hum. Mutat. 7: 158-163, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8829635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8829635</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:2<158::AID-HUMU12>3.0.CO;2-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8829635">Manfredi et al. (1996)</a> identified a heteroplasmic 5814A-G transition in the MTTC gene (<a href="#0001">590020.0001</a>) in a 5-year-old girl of Portuguese origin who presented with MELAS (<a href="/entry/540000">540000</a>)-like symptoms at age 3. The same group (<a href="#3" class="mim-tip-reference" title="Santorelli, F. M., Siciliano, G., Casali, C., Basirico, M. G., Carrozzo, R., Calvosa, F., Sartucci, F., Bonfiglio, L., Murri, L., DiMauro, S. <strong>Mitochondrial tRNA(cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.</strong> Neuromusc. Disord. 7: 156-159, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9185178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9185178</a>] [<a href="https://doi.org/10.1016/s0960-8966(97)00444-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9185178">Santorelli et al., 1997</a>) identified the 5814A-G mutation in an Italian family with a maternally inherited encephalomyopathy including progressive external ophthalmoplegia, seizures, and neurophysiologic evidence of brainstem dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8829635+9185178" 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="McFarland, R., Chinnery, P. F., Blakely, E. L., Schaefer, A. M., Morris, A. A. M., Foster, S. M., Tuppen, H. A. L., Ramesh, V., Dorman, P. J., Turnbull, D. M., Taylor, R. W. <strong>Homoplasmy, heteroplasmy, and mitochondrial dystonia.</strong> Neurology 69: 911-916, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17724295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17724295</a>] [<a href="https://doi.org/10.1212/01.wnl.0000267843.10977.4a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17724295">McFarland et al. (2007)</a> identified a homoplasmic 5816A-G transition in the MTTC gene (<a href="#0002">590020.0002</a>) in 4 maternally-related members of a family with a mitochondrial disorder with variable features, but most commonly including severe dystonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17724295" 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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<br />
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<a id="allelicVariants" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span href="#mimAllelicVariantsFold" id="mimAllelicVariantsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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</span>
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<strong>2 Selected Examples</a>):</strong>
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</span>
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</h4>
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<div>
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<p />
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<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
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<div>
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<a href="/allelicVariants/590020" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=590020[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>
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<p />
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<a id="0001" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0001 MELAS SYNDROME</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<div style="float: left;">
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MTTC, 5814A-G
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs200077222 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200077222;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=rs200077222" 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=rs200077222" 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=RCV000022896 OR RCV000506681 OR RCV003319171" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022896, RCV000506681, RCV003319171" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022896...</a>
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</span>
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<div>
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<p>In a 5-year-old girl of Portuguese origin who presented with MELAS (<a href="/entry/540000">540000</a>) symptoms at age 3, <a href="#1" class="mim-tip-reference" title="Manfredi, G., Schon, E. A., Bonilla, E., Moraes, C. T., Shanske, S., DiMauro, S. <strong>Identification of a mutation in the mitochondrial tRNA-cys gene associated with mitochondrial encephalopathy.</strong> Hum. Mutat. 7: 158-163, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8829635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8829635</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:2<158::AID-HUMU12>3.0.CO;2-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8829635">Manfredi et al. (1996)</a> identified a heteroplasmic 5814A-G transition in the MTTC gene within the D-stem. The mutation load in muscle and blood was high, above 90%, although analysis of individual muscle fibers showed a mutation load of 74 to 95%. The mutation was not found in 50 controls. The patient had episodic vomiting, lactic acidosis, seizures, and hemiparesis. Brain MRI showed diffuse white matter abnormalities in the frontal lobes and basal ganglia. However, ragged-red fibers were not noted on muscle biopsies, leading <a href="#1" class="mim-tip-reference" title="Manfredi, G., Schon, E. A., Bonilla, E., Moraes, C. T., Shanske, S., DiMauro, S. <strong>Identification of a mutation in the mitochondrial tRNA-cys gene associated with mitochondrial encephalopathy.</strong> Hum. Mutat. 7: 158-163, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8829635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8829635</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:2<158::AID-HUMU12>3.0.CO;2-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8829635">Manfredi et al. (1996)</a> to use the term 'MELAS-like" to describe the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8829635" 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>The same group (<a href="#3" class="mim-tip-reference" title="Santorelli, F. M., Siciliano, G., Casali, C., Basirico, M. G., Carrozzo, R., Calvosa, F., Sartucci, F., Bonfiglio, L., Murri, L., DiMauro, S. <strong>Mitochondrial tRNA(cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.</strong> Neuromusc. Disord. 7: 156-159, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9185178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9185178</a>] [<a href="https://doi.org/10.1016/s0960-8966(97)00444-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9185178">Santorelli et al., 1997</a>) identified the 5814A-G mutation in an Italian family with a maternally inherited encephalomyopathy including progressive external ophthalmoplegia, seizures, and neurophysiologic evidence of brainstem dysfunction. The proband was a 33-year-old woman who had normal development until adolescence, when she complained of easy fatigability and developed limitations of eye movements. By age 27, she also had hearing impairment, unsteady gait, hyporeflexia, nystagmus, and lactic acidosis. Brain MRI showed hyperintensities in the corpus callosum, posterior wall of the third ventricle, and brainstem. She later developed myoclonic jerks and generalized tonic-clonic seizures. Muscle biopsy showed ragged-red fibers and echocardiography showed abnormal repolarization and mild hypertrophy of the interventricular septum. She became ventilator-dependent and bedridden, and died at age 33. The mutation load was 96% in blood and 98% in muscle. Three maternal relatives also carried the mutation: the mother had moderate bradykinesia (mutation load of 88%), asymptomatic brother (74%), and teenage daughter (92%). All 3 relatives had abnormal neurophysiologic activity in the brainstem. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9185178" 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">rs387906732 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906732;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=rs387906732" 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=rs387906732" 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=RCV000022897 OR RCV004691095" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022897, RCV004691095" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022897...</a>
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<p>In 4 maternally-related members of a family with a mitochondrial disorder with variable features, but most commonly including severe dystonia, <a href="#2" class="mim-tip-reference" title="McFarland, R., Chinnery, P. F., Blakely, E. L., Schaefer, A. M., Morris, A. A. M., Foster, S. M., Tuppen, H. A. L., Ramesh, V., Dorman, P. J., Turnbull, D. M., Taylor, R. W. <strong>Homoplasmy, heteroplasmy, and mitochondrial dystonia.</strong> Neurology 69: 911-916, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17724295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17724295</a>] [<a href="https://doi.org/10.1212/01.wnl.0000267843.10977.4a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17724295">McFarland et al. (2007)</a> identified a homoplasmic 5816A-G transition in the MTTC gene. Northern blot analysis showed about 30% residual levels of MTTC in patient muscle samples. Two brothers in the younger generation had onset in the late teens of seizures, tremor, and progressive dystonia affecting the limbs. One also had ptosis, optic atrophy, and jerky ocular pursuit movements. Two sibs in the older generation had onset in their forties of progressive dystonia; 1 also had seizures and the other had bulbar dysfunction, and ptosis. Muscle biopsies were normal, except in 1 of the younger patients, who had a mosaic pattern of COX deficiency, suggesting an mtDNA mutation. <a href="#2" class="mim-tip-reference" title="McFarland, R., Chinnery, P. F., Blakely, E. L., Schaefer, A. M., Morris, A. A. M., Foster, S. M., Tuppen, H. A. L., Ramesh, V., Dorman, P. J., Turnbull, D. M., Taylor, R. W. <strong>Homoplasmy, heteroplasmy, and mitochondrial dystonia.</strong> Neurology 69: 911-916, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17724295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17724295</a>] [<a href="https://doi.org/10.1212/01.wnl.0000267843.10977.4a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17724295">McFarland et al. (2007)</a> emphasized the unusual presentation of a mitochondrial disease in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17724295" 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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Manfredi, G., Schon, E. A., Bonilla, E., Moraes, C. T., Shanske, S., DiMauro, S.
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<strong>Identification of a mutation in the mitochondrial tRNA-cys gene associated with mitochondrial encephalopathy.</strong>
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Hum. Mutat. 7: 158-163, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8829635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8829635</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8829635" 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/(SICI)1098-1004(1996)7:2<158::AID-HUMU12>3.0.CO;2-1" target="_blank">Full Text</a>]
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McFarland, R., Chinnery, P. F., Blakely, E. L., Schaefer, A. M., Morris, A. A. M., Foster, S. M., Tuppen, H. A. L., Ramesh, V., Dorman, P. J., Turnbull, D. M., Taylor, R. W.
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<strong>Homoplasmy, heteroplasmy, and mitochondrial dystonia.</strong>
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Neurology 69: 911-916, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17724295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17724295</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17724295" 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.0000267843.10977.4a" target="_blank">Full Text</a>]
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Santorelli, F. M., Siciliano, G., Casali, C., Basirico, M. G., Carrozzo, R., Calvosa, F., Sartucci, F., Bonfiglio, L., Murri, L., DiMauro, S.
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<strong>Mitochondrial tRNA(cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.</strong>
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Neuromusc. Disord. 7: 156-159, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9185178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9185178</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9185178" 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/s0960-8966(97)00444-6" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 8/2/2011
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Victor A. McKusick : 3/2/1993
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ckniffin : 8/2/2011<br>carol : 5/26/1993<br>carol : 5/17/1993<br>carol : 3/2/1993
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TRANSFER RNA, MITOCHONDRIAL, CYSTEINE; MTTC
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<p>Manfredi et al. (1996) identified a heteroplasmic 5814A-G transition in the MTTC gene (590020.0001) in a 5-year-old girl of Portuguese origin who presented with MELAS (540000)-like symptoms at age 3. The same group (Santorelli et al., 1997) identified the 5814A-G mutation in an Italian family with a maternally inherited encephalomyopathy including progressive external ophthalmoplegia, seizures, and neurophysiologic evidence of brainstem dysfunction. </p><p>McFarland et al. (2007) identified a homoplasmic 5816A-G transition in the MTTC gene (590020.0002) in 4 maternally-related members of a family with a mitochondrial disorder with variable features, but most commonly including severe dystonia. </p>
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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>2 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 MELAS SYNDROME</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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MTTC, 5814A-G
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<br />
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SNP: rs200077222,
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ClinVar: RCV000022896, RCV000506681, RCV003319171
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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 5-year-old girl of Portuguese origin who presented with MELAS (540000) symptoms at age 3, Manfredi et al. (1996) identified a heteroplasmic 5814A-G transition in the MTTC gene within the D-stem. The mutation load in muscle and blood was high, above 90%, although analysis of individual muscle fibers showed a mutation load of 74 to 95%. The mutation was not found in 50 controls. The patient had episodic vomiting, lactic acidosis, seizures, and hemiparesis. Brain MRI showed diffuse white matter abnormalities in the frontal lobes and basal ganglia. However, ragged-red fibers were not noted on muscle biopsies, leading Manfredi et al. (1996) to use the term 'MELAS-like" to describe the phenotype. </p><p>The same group (Santorelli et al., 1997) identified the 5814A-G mutation in an Italian family with a maternally inherited encephalomyopathy including progressive external ophthalmoplegia, seizures, and neurophysiologic evidence of brainstem dysfunction. The proband was a 33-year-old woman who had normal development until adolescence, when she complained of easy fatigability and developed limitations of eye movements. By age 27, she also had hearing impairment, unsteady gait, hyporeflexia, nystagmus, and lactic acidosis. Brain MRI showed hyperintensities in the corpus callosum, posterior wall of the third ventricle, and brainstem. She later developed myoclonic jerks and generalized tonic-clonic seizures. Muscle biopsy showed ragged-red fibers and echocardiography showed abnormal repolarization and mild hypertrophy of the interventricular septum. She became ventilator-dependent and bedridden, and died at age 33. The mutation load was 96% in blood and 98% in muscle. Three maternal relatives also carried the mutation: the mother had moderate bradykinesia (mutation load of 88%), asymptomatic brother (74%), and teenage daughter (92%). All 3 relatives had abnormal neurophysiologic activity in the brainstem. </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 DYSTONIA, MITOCHONDRIAL</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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MTTC, 5816A-G
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<br />
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SNP: rs387906732,
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ClinVar: RCV000022897, RCV004691095
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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 4 maternally-related members of a family with a mitochondrial disorder with variable features, but most commonly including severe dystonia, McFarland et al. (2007) identified a homoplasmic 5816A-G transition in the MTTC gene. Northern blot analysis showed about 30% residual levels of MTTC in patient muscle samples. Two brothers in the younger generation had onset in the late teens of seizures, tremor, and progressive dystonia affecting the limbs. One also had ptosis, optic atrophy, and jerky ocular pursuit movements. Two sibs in the older generation had onset in their forties of progressive dystonia; 1 also had seizures and the other had bulbar dysfunction, and ptosis. Muscle biopsies were normal, except in 1 of the younger patients, who had a mosaic pattern of COX deficiency, suggesting an mtDNA mutation. McFarland et al. (2007) emphasized the unusual presentation of a mitochondrial disease in this family. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Manfredi, G., Schon, E. A., Bonilla, E., Moraes, C. T., Shanske, S., DiMauro, S.
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<strong>Identification of a mutation in the mitochondrial tRNA-cys gene associated with mitochondrial encephalopathy.</strong>
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Hum. Mutat. 7: 158-163, 1996.
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[PubMed: 8829635]
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1996)7:2<158::AID-HUMU12>3.0.CO;2-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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McFarland, R., Chinnery, P. F., Blakely, E. L., Schaefer, A. M., Morris, A. A. M., Foster, S. M., Tuppen, H. A. L., Ramesh, V., Dorman, P. J., Turnbull, D. M., Taylor, R. W.
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<strong>Homoplasmy, heteroplasmy, and mitochondrial dystonia.</strong>
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Neurology 69: 911-916, 2007.
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[PubMed: 17724295]
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[Full Text: https://doi.org/10.1212/01.wnl.0000267843.10977.4a]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Santorelli, F. M., Siciliano, G., Casali, C., Basirico, M. G., Carrozzo, R., Calvosa, F., Sartucci, F., Bonfiglio, L., Murri, L., DiMauro, S.
|
|
<strong>Mitochondrial tRNA(cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.</strong>
|
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Neuromusc. Disord. 7: 156-159, 1997.
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[PubMed: 9185178]
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[Full Text: https://doi.org/10.1016/s0960-8966(97)00444-6]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/2/2011
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 3/2/1993
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<span class="text-nowrap mim-text-font">
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Edit History:
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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 : 08/02/2011<br>ckniffin : 8/2/2011<br>carol : 5/26/1993<br>carol : 5/17/1993<br>carol : 3/2/1993
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