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Entry
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- *600650 - CARNITINE PALMITOYLTRANSFERASE II; CPT2
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*600650</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600650">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000157184;t=ENST00000371486" 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=1376" 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=600650" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000157184;t=ENST00000371486" 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_000098,NM_001330589" 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_000098" 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=600650" 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=02802&isoform_id=02802_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/CPT2" 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/180989,416836,579811,1041193,1041195,4503023,12803261,13477387,45822982,62897665,119627158,189053401,298532107,298538854,298547815,332367919,1060099013" 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/P23786" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=1376" 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=ENSG00000157184;t=ENST00000371486" 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=CPT2" 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=CPT2" 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+1376" 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/CPT2" 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:1376" 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/1376" 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=chr1&hgg_gene=ENST00000371486.4&hgg_start=53196824&hgg_end=53214197&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2330" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/cpt2" 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=600650[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=600650[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/CPT2/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/ENSG00000157184" 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=CPT2" 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=CPT2" 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=CPT2" 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=CPT2&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/PA26849" 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:2330" 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/FBgn0035383.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:109176" 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/CPT2#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:109176" 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/1376/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=1376" 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=WBGene00011122;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-030131-6719" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:600650" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1376" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=CPT2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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600650
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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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CARNITINE PALMITOYLTRANSFERASE II; CPT2
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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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CPT II
|
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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=CPT2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CPT2</a></em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/1/626?start=-3&limit=10&highlight=626">1p32.3</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:53196824-53214197&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'})">1:53,196,824-53,214,197</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614212,600649,608836,255110" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="4">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/626?start=-3&limit=10&highlight=626">
|
|
1p32.3
|
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</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
{Encephalopathy, acute, infection-induced, 4, susceptibility to}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614212"> 614212 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/600650" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/600650" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The CPT2 gene encodes carnitine palmitoyltransferase II, an enzyme that participates in fatty acid oxidation. The carnitine palmitoyltransferase (CPT; <a href="https://enzyme.expasy.org/EC/2.3.1.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.3.1.21</a>) enzyme system, in conjunction with acyl-CoA synthetase and carnitine/acylcarnitine translocase (<a href="/entry/613698">613698</a>), provides the mechanism whereby long-chain fatty acids are transferred from the cytosol to the mitochondrial matrix to undergo beta-oxidation. The CPT I isozymes (see CPT1A; <a href="/entry/600528">600528</a> and CPT1B; <a href="/entry/601987">601987</a>) are located in the mitochondrial outer membrane and are detergent-labile, whereas CPT II is located in the inner mitochondrial membrane and is detergent-stable (<a href="#3" class="mim-tip-reference" title="Bieber, L. L. <strong>Carnitine.</strong> Annu. Rev. Biochem. 57: 261-283, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3052273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3052273</a>] [<a href="https://doi.org/10.1146/annurev.bi.57.070188.001401" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3052273">Bieber, 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3052273" 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>By screening a human liver cDNA library, <a href="#10" class="mim-tip-reference" title="Finocchiaro, G., Taroni, F., Rocchi, M., Liras Martin, A., Colombo, I., Tarelli, G. T., DiDonato, S. <strong>cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.</strong> Proc. Nat. Acad. Sci. 88: 661-665, 1991. Note: Erratum: Proc. Nat. Acad. Sci. 88: 10981 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1988962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1988962</a>] [<a href="https://doi.org/10.1073/pnas.88.2.661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1988962">Finocchiaro et al. (1991)</a> cloned and sequenced a cDNA encoding human carnitine palmitoyltransferase II. The deduced 658-amino acid protein contains a 25-residue NH2-terminal leader peptide. The amino acid sequence shows 82.2% homology with the rat CTP II protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1988962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Montermini, L., Wang, H., Verderio, E., Taroni, F., DiDonato, S., Finocchiaro, G. <strong>Identification of 5-prime regulatory regions of the human carnitine palmitoyltransferase II gene.</strong> Biochim. Biophys. Acta 1219: 237-240, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8086471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8086471</a>] [<a href="https://doi.org/10.1016/0167-4781(94)90280-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8086471">Montermini et al. (1994)</a> identified regulatory elements in the promoter of the CPT2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8086471" 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="#29" class="mim-tip-reference" title="Verderio, E., Cavadini, P., Montermini, L., Wang, H., Lamantea, E., Finocchiaro, G., DiDonato, S., Gellera, C., Taroni, F. <strong>Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.</strong> Hum. Molec. Genet. 4: 19-29, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711730</a>] [<a href="https://doi.org/10.1093/hmg/4.1.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711730">Verderio et al. (1995)</a> determined that the CPT2 gene contains 5 exons spanning approximately 20 kb of DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711730" 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>By human-hamster somatic cell hybridization, <a href="#10" class="mim-tip-reference" title="Finocchiaro, G., Taroni, F., Rocchi, M., Liras Martin, A., Colombo, I., Tarelli, G. T., DiDonato, S. <strong>cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.</strong> Proc. Nat. Acad. Sci. 88: 661-665, 1991. Note: Erratum: Proc. Nat. Acad. Sci. 88: 10981 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1988962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1988962</a>] [<a href="https://doi.org/10.1073/pnas.88.2.661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1988962">Finocchiaro et al. (1991)</a> assigned the CPT2 gene (which they referred to as CPT1) to chromosome 1pter-q12. By fluorescence in situ hybridization, <a href="#18" class="mim-tip-reference" title="Minoletti, F., Colombo, I., Liras Martin, A., DiDonato, S., Taroni, F., Finocchiaro, G., Pandolfo, M. <strong>Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization.</strong> Genomics 13: 1372-1374, 1992. Note: Retraction: Genomics 24: 198 only, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1339389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1339389</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90076-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1339389">Minoletti et al. (1992)</a> refined the assignment of the CPT2 gene to 1p13-p11. However, also using fluorescence in situ hybridization, <a href="#11" class="mim-tip-reference" title="Gellera, C., Verderio, E., Floridia, G., Finocchiaro, G., Montermini, L., Cavadini, P., Zuffardi, O., Taroni, F. <strong>Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32.</strong> Genomics 24: 195-197, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7896283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7896283</a>] [<a href="https://doi.org/10.1006/geno.1994.1605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7896283">Gellera et al. (1994)</a> concluded that the CPT2 gene is located in band 1p32 and that the previously used probe that mapped the gene to 1p13-p11 'must be considered an as yet anonymous probe.' It is now clear that the gene mapped to chromosome 1p32 was CPT2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1339389+1988962+7896283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Britton, C. H., Schultz, R. A., Zhang, B., Esser, V., Foster, D. W., McGarry, J. D. <strong>Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.</strong> Proc. Nat. Acad. Sci. 92: 1984-1988, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7892212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7892212</a>] [<a href="https://doi.org/10.1073/pnas.92.6.1984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7892212">Britton et al. (1995)</a> distinguished CPT I and CPT II, and reported that major control over the fatty acid oxidation process is exerted at the level of CPT I by the unique inhibition of this enzyme by malonyl-CoA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7892212" 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="#22" class="mim-tip-reference" title="Slama, A., Brivet, M., Boutron, A., Legrand, A., Saudubray, J.-M., Demaugre, F. <strong>Complementation analysis of carnitine palmitoyltransferase I and II defects.</strong> Pediat. Res. 40: 542-546, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8888280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8888280</a>] [<a href="https://doi.org/10.1203/00006450-199610000-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8888280">Slama et al. (1996)</a> carried out complementation experiments between cell lines derived from patients with CPT I deficiency (<a href="/entry/255120">255120</a>) or infantile CPT II deficiency (<a href="/entry/600649">600649</a>) by measuring restoration of tritium release from palmitate. As expected, no complementation was observed in heteropolykaryons resulting from fusion of CPT I-deficient cells or of CPT II-deficient cells. Conversely, complementation was observed in fusions of CPT I- and CPT II-deficient cells. These data suggested that the defects in CPT I deficiency and infantile CPT II deficiency are determined by mutations in distinct genes. Palmitate oxidation by control or CPT I-deficient cell lines decreased when these cell lines were cocultured with infantile CPT II-deficient cell lines. This effect, not observed in a coculture with an adult CPT II-deficient cell line, was suppressed by a high carnitine concentration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8888280" 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="#10" class="mim-tip-reference" title="Finocchiaro, G., Taroni, F., Rocchi, M., Liras Martin, A., Colombo, I., Tarelli, G. T., DiDonato, S. <strong>cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.</strong> Proc. Nat. Acad. Sci. 88: 661-665, 1991. Note: Erratum: Proc. Nat. Acad. Sci. 88: 10981 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1988962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1988962</a>] [<a href="https://doi.org/10.1073/pnas.88.2.661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1988962">Finocchiaro et al. (1991)</a>, <a href="#18" class="mim-tip-reference" title="Minoletti, F., Colombo, I., Liras Martin, A., DiDonato, S., Taroni, F., Finocchiaro, G., Pandolfo, M. <strong>Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization.</strong> Genomics 13: 1372-1374, 1992. Note: Retraction: Genomics 24: 198 only, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1339389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1339389</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90076-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1339389">Minoletti et al. (1992)</a>, and <a href="#11" class="mim-tip-reference" title="Gellera, C., Verderio, E., Floridia, G., Finocchiaro, G., Montermini, L., Cavadini, P., Zuffardi, O., Taroni, F. <strong>Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32.</strong> Genomics 24: 195-197, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7896283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7896283</a>] [<a href="https://doi.org/10.1006/geno.1994.1605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7896283">Gellera et al. (1994)</a> all referred to the CPT gene on chromosome 1 as CPT1; it is referred to here as CPT2 following the elucidation by <a href="#5" class="mim-tip-reference" title="Britton, C. H., Schultz, R. A., Zhang, B., Esser, V., Foster, D. W., McGarry, J. D. <strong>Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.</strong> Proc. Nat. Acad. Sci. 92: 1984-1988, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7892212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7892212</a>] [<a href="https://doi.org/10.1073/pnas.92.6.1984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7892212">Britton et al. (1995)</a>. CPT1 (<a href="/entry/600528">600528</a>) maps to chromosome 11. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1339389+7892212+1988962+7896283" 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><strong><em>Carnitine Palmitoyltransferase II Deficiency</em></strong></p><p>
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In a patient with infantile carnitine palmitoyltransferase II deficiency (<a href="/entry/600649">600649</a>) with hypoketotic hypoglycemia and cardiomyopathy, <a href="#27" class="mim-tip-reference" title="Taroni, F., Verderio, E., Fiorucci, S., Cavadini, P., Finocchiaro, G., Uziel, G., Lamantea, E., Gellera, C., DiDonato, S. <strong>Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.</strong> Proc. Nat. Acad. Sci. 89: 8429-8433, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1528846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1528846</a>] [<a href="https://doi.org/10.1073/pnas.89.18.8429" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1528846">Taroni et al. (1992)</a> identified a homozygous mutation in the CPT2 gene (<a href="#0001">600650.0001</a>). The patient was also homozygous for a mutant CPT2 allele (termed the 'ICV' allele) that carried 2 other rare polymorphisms. In a patient with infantile CPT II deficiency reported by <a href="#7" class="mim-tip-reference" title="Demaugre, F., Bonnefont, J.-P., Colonna, M., Cepanec, C., Leroux, J.-P., Saudubray, J.-M. <strong>Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death: physiopathological approach to carnitine palmitoyltransferase II deficiencies.</strong> J. Clin. Invest. 87: 859-864, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999498</a>] [<a href="https://doi.org/10.1172/JCI115090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1999498">Demaugre et al. (1991)</a>, <a href="#4" class="mim-tip-reference" title="Bonnefont, J.-P., Taroni, F., Cavadini, P., Cepanec, C., Brivet, M., Saudubray, J.-M., Leroux, J.-P., Demaugre, F. <strong>Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.</strong> Am. J. Hum. Genet. 58: 971-978, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651281</a>]" pmid="8651281">Bonnefont et al. (1996)</a> identified a homozygous mutation in the CPT2 gene (<a href="#0005">600650.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8651281+1999498+1528846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Dutch patient with the myopathic form of CPT II deficiency (<a href="/entry/255110">255110</a>), <a href="#26" class="mim-tip-reference" title="Taroni, F., Verderio, E., Dworzak, F., Willems, P. J., Cavadini, P., DiDonato, S. <strong>Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.</strong> Nature Genet. 4: 314-320, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8358442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8358442</a>] [<a href="https://doi.org/10.1038/ng0793-314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8358442">Taroni et al. (1993)</a> identified compound heterozygosity for 2 mutations in the CPT2 gene (<a href="#0001">600650.0001</a>; <a href="#0002">600650.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8358442" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Elpeleg, O. N., Hammerman, C., Saada, A., Shaag, A., Golzand, E., Hochner-Celnikier, D., Berger, I., Nadjari, M. <strong>Antenatal presentation of carnitine palmitoyltransferase II deficiency.</strong> Am. J. Med. Genet. 102: 183-187, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11477613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11477613</a>] [<a href="https://doi.org/10.1002/ajmg.1457" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11477613">Elpeleg et al. (2001)</a> reported 2 Ashkenazi Jewish sibs with the antenatal, or lethal neonatal, form of CPT II deficiency (<a href="/entry/608836">608836</a>) who were homozygous for an allele carrying 2 mutations in exon 4 of the CPT2 gene (<a href="#0009">600650.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11477613" 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="#14" class="mim-tip-reference" title="Isackson, P. J., Bennett, M. J., Lichter-Konecki, U., Willis, M., Nyhan, W. L., Sutton, V. R., Tein, I., Vladutiu, G. D. <strong>CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.</strong> Molec. Genet. Metab. 94: 422-427, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550408</a>] [<a href="https://doi.org/10.1016/j.ymgme.2008.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18550408">Isackson et al. (2008)</a> identified compound heterozygous or homozygous mutations in the CPT2 gene in 3 patients with lethal neonatal CPT II deficiency (see, e.g., <a href="#0013">600650.0013</a>) and in 2 patients with infantile CPT II deficiency. Three of the mutations were novel (see, e.g., <a href="#0017">600650.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18550408" 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="#20" class="mim-tip-reference" title="Orngreen, M. C., Duno, M., Ejstrup, R., Christensen, E., Schwartz, M., Sacchetti, M., Vissing, J. <strong>Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.</strong> Ann. Neurol. 57: 60-66, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15622536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15622536</a>] [<a href="https://doi.org/10.1002/ana.20320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15622536">Orngreen et al. (2005)</a> identified 2 unrelated patients with mild features of late-onset (myopathic) CPT II deficiency who each carried a single mutation in the CPT2 gene (<a href="#0015">600650.0015</a> and <a href="#0016">600650.0016</a>). The findings indicated that some heterozygous CPT2 mutation carriers may be symptomatic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15622536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Acute Infection-Induced Encephalopathy-4</em></strong></p><p>
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<a href="#6" class="mim-tip-reference" title="Chen, Y., Mizuguchi, H., Yao, D., Ide, M., Kuroda, Y., Shigematsu, Y., Yamaguchi, S., Yamaguchi, M., Kinoshita, M., Kido, H. <strong>Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.</strong> FEBS Lett. 579: 2040-2044, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15811315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15811315</a>] [<a href="https://doi.org/10.1016/j.febslet.2005.02.050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15811315">Chen et al. (2005)</a> found that a Japanese girl with fatal acute infection-induced encephalopathy-4 (IIAE4; <a href="/entry/614212">614212</a>) was heterozygous for a thermolabile allele in the CPT2 gene (<a href="#0018">600650.0018</a>). She had significantly increased serum acylcarnitine levels during febrile convulsions. Her 2 unaffected brothers, who were heterozygous for the allele, and their father, who was homozygous for the allele, had slightly increased serum acylcarnitine compared to normal values in the nonfebrile state. The mother, who was heterozygous only for the 368I, had normal acylcarnitine levels in the nonfebrile state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15811315" 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 a study of 19 patients with CPT II deficiency, 13 with adult onset and 6 with infantile onset, <a href="#28" class="mim-tip-reference" title="Thuillier, L., Rostane, H., Droin, V., Demaugre, F., Brivet, M., Kadhom, N., Prip-Buus, C., Gobin, S., Saudubray, J.-M., Bonnefont, J.-P. <strong>Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.</strong> Hum. Mutat. 21: 493-501, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12673791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12673791</a>] [<a href="https://doi.org/10.1002/humu.10201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12673791">Thuillier et al. (2003)</a> found that all patients with the infantile form had mutations in exon 4 or 5 of the CPT2 gene. Twelve of the adult patients carried the S113L (<a href="#0002">600650.0002</a>) mutation. Although there was an overlap in residual CPT II activity between the 2 groups (ranging from 4 to 12%), there was a significant decrease in palmitate oxidation in the infantile group (less than 10%) compared to the adult group (45 to 70%). <a href="#28" class="mim-tip-reference" title="Thuillier, L., Rostane, H., Droin, V., Demaugre, F., Brivet, M., Kadhom, N., Prip-Buus, C., Gobin, S., Saudubray, J.-M., Bonnefont, J.-P. <strong>Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.</strong> Hum. Mutat. 21: 493-501, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12673791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12673791</a>] [<a href="https://doi.org/10.1002/humu.10201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12673791">Thuillier et al. (2003)</a> concluded that both the type and location of CPT2 mutations and at least 1 additional, unidentified genetic factor modulate the long-chain fatty acid flux and therefore the severity of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12673791" 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=600650[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs74315293 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315293;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/rs74315293?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=rs74315293" 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=rs74315293" 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=RCV000009508 OR RCV000202472 OR RCV000415574 OR RCV001781211 OR RCV002476950 OR RCV003473062" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009508, RCV000202472, RCV000415574, RCV001781211, RCV002476950, RCV003473062" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009508...</a>
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<p>In a patient with infantile carnitine palmitoyltransferase II deficiency (<a href="/entry/600649">600649</a>), <a href="#27" class="mim-tip-reference" title="Taroni, F., Verderio, E., Fiorucci, S., Cavadini, P., Finocchiaro, G., Uziel, G., Lamantea, E., Gellera, C., DiDonato, S. <strong>Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.</strong> Proc. Nat. Acad. Sci. 89: 8429-8433, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1528846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1528846</a>] [<a href="https://doi.org/10.1073/pnas.89.18.8429" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1528846">Taroni et al. (1992)</a> identified homozygosity for a mutant CPT2 allele (termed the 'ICV' allele) that carried 3 missense changes: a 1203G-A transition predicting a val368-to-ile substitution (V368I); a 1992C-T transition predicting an arg631-to-cys substitution (R631C); and a 2040A-G transition predicting a met647-to-val substitution (M647V). Screening of 59 healthy controls demonstrated that both the V368I and M647V mutations are sequence polymorphisms with allele frequencies of 0.5 and 0.25, respectively. The R631C substitution was not detected in 22 normal individuals or in 12 of 14 CPTase II-deficient patients with the muscular (myopathic) form of CPT II deficiency (<a href="/entry/255110">255110</a>). Notably, 2 of the adult CPTase II-deficient patients were heterozygous for the triply mutant ICV allele, suggesting compound heterozygosity for this and a different mutant allele. In vitro functional expression studies showed that the R631C substitution drastically depressed catalytic activity of the CPT II protein. The V368I and M647V mutations, although not affecting enzyme activity alone, exacerbated the effects of the R631C substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1528846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Dutch patient with adult-onset (myopathic) CPT II deficiency, <a href="#26" class="mim-tip-reference" title="Taroni, F., Verderio, E., Dworzak, F., Willems, P. J., Cavadini, P., DiDonato, S. <strong>Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.</strong> Nature Genet. 4: 314-320, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8358442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8358442</a>] [<a href="https://doi.org/10.1038/ng0793-314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8358442">Taroni et al. (1993)</a> identified compound heterozygosity for the R631C mutation and the S113L mutation (<a href="#0002">600650.0002</a>). Another unrelated Italian patient with the myopathic form had the R631C mutation on 1 allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8358442" 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>.0002 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs74315294 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315294;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/rs74315294?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=rs74315294" 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=rs74315294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 8 unrelated patients with familial recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency (<a href="/entry/255110">255110</a>), <a href="#26" class="mim-tip-reference" title="Taroni, F., Verderio, E., Dworzak, F., Willems, P. J., Cavadini, P., DiDonato, S. <strong>Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.</strong> Nature Genet. 4: 314-320, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8358442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8358442</a>] [<a href="https://doi.org/10.1038/ng0793-314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8358442">Taroni et al. (1993)</a> identified a homozygous 439C-T transition in the CPT2 gene, resulting in a ser133-to-leu substitution (S133L). One of the patients had been reported by <a href="#8" class="mim-tip-reference" title="DiDonato, S., Cornelio, F., Pacini, L., Peluchetti, D., Rimoldi, M., Spreafico, S. <strong>Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts.</strong> Ann. Neurol. 4: 465-467, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/736528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">736528</a>] [<a href="https://doi.org/10.1002/ana.410040513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="736528">DiDonato et al. (1978)</a>. Among a total of 25 patients with the disorder, <a href="#26" class="mim-tip-reference" title="Taroni, F., Verderio, E., Dworzak, F., Willems, P. J., Cavadini, P., DiDonato, S. <strong>Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.</strong> Nature Genet. 4: 314-320, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8358442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8358442</a>] [<a href="https://doi.org/10.1038/ng0793-314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8358442">Taroni et al. (1993)</a> found the S113L mutation in 56% of the mutant CPT II alleles and concluded that the S113L missense mutation is the most frequent change found in the myopathic form of CPT II deficiency. One Dutch patient was compound heterozygous for the S113L mutation and the R631C (<a href="#0001">600650.0001</a>) mutation. In vitro functional expression studies showed that the S113L mutation resulted in normal protein synthesis, but a markedly reduced steady-state level, indicating decreased stability of the mutant protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8358442+736528" 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 in vitro functional analysis in fibroblasts, <a href="#4" class="mim-tip-reference" title="Bonnefont, J.-P., Taroni, F., Cavadini, P., Cepanec, C., Brivet, M., Saudubray, J.-M., Leroux, J.-P., Demaugre, F. <strong>Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.</strong> Am. J. Hum. Genet. 58: 971-978, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651281</a>]" pmid="8651281">Bonnefont et al. (1996)</a> showed that the S113L mutation resulted in 20% CPT II residual activity with no consequence on long-chain fatty acid (LCFA) oxidation, whereas the Y628S mutation (<a href="#0005">600650.0005</a>), found in the more severe infantile form of the disorder (<a href="/entry/600649">600649</a>), resulted in 10% CPT II residual activity and markedly impaired LCFA oxidation. <a href="#4" class="mim-tip-reference" title="Bonnefont, J.-P., Taroni, F., Cavadini, P., Cepanec, C., Brivet, M., Saudubray, J.-M., Leroux, J.-P., Demaugre, F. <strong>Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.</strong> Am. J. Hum. Genet. 58: 971-978, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651281</a>]" pmid="8651281">Bonnefont et al. (1996)</a> concluded that CPT II activity must be reduced below a critical threshold for LCFA oxidation in fibroblasts to be impaired. This critical threshold differs among tissues, thus providing a basis for the phenotypic heterogeneity of CPT II deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 related patients with CPT II deficiency from consanguineous marriages, 2 sibs and a first cousin, <a href="#13" class="mim-tip-reference" title="Handig, I., Dams, E., Taroni, F., Van Laere, S., de Barsy, T., Willems, P. J. <strong>Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency.</strong> Hum. Genet. 97: 291-293, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786066</a>] [<a href="https://doi.org/10.1007/BF02185756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8786066">Handig et al. (1996)</a> identified homozygosity for the S113L mutation. The cases could be traced back to a common ancestral couple 5 generations earlier. The family showed clinical variability of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Martin, M. A., Rubio, J. C., De Bustos, F., Del Hoyo, P., Campos, Y., Garcia, A., Bornstein, B., Cabello, A., Arenas, J. <strong>Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency.</strong> Muscle Nerve 22: 941-943, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10398215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10398215</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199907)22:7<941::aid-mus20>3.0.co;2-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10398215">Martin et al. (1999)</a> identified the S113L mutation in 8 of 14 Spanish patients from 10 unrelated families. Seven patients were homozygous for the mutation, 1 patient was heterozygous, and 6 patients did not carry the mutation on either allele. The mutation was found in the heterozygous state in 7 healthy relatives belonging to 3 different families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10398215" 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="#15" class="mim-tip-reference" title="Joshi, P. R., Deschauer, M., Zierz, S. <strong>Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.</strong> Wien. Klin. Wochenschr. 124: 851-854, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23184072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23184072</a>] [<a href="https://doi.org/10.1007/s00508-012-0296-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23184072">Joshi et al. (2012)</a> reported 2 unrelated patients with stress-induced myopathic carnitine palmitoyltransferase II deficiency who were heterozygous for the S113L mutation. One patient, a 21-year-old female professional tennis player, suffered from exercise-induced attacks of muscle pain, burning sensations, and proximal weakness. The other patient, a 30-year-old male amateur marathon runner, developed muscle cramps and rhabdomyolysis upon extensive exercise and insolation-induced fever. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23184072" 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>.0003 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28936375 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28936375;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/rs28936375?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=rs28936375" 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=rs28936375" 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=RCV000009511 OR RCV000009512 OR RCV000202440 OR RCV000440440 OR RCV000735345 OR RCV000762941 OR RCV003473063" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009511, RCV000009512, RCV000202440, RCV000440440, RCV000735345, RCV000762941, RCV003473063" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009511...</a>
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<p>In patients with the myopathic form of CPT II deficiency (<a href="/entry/255110">255110</a>), <a href="#29" class="mim-tip-reference" title="Verderio, E., Cavadini, P., Montermini, L., Wang, H., Lamantea, E., Finocchiaro, G., DiDonato, S., Gellera, C., Taroni, F. <strong>Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.</strong> Hum. Molec. Genet. 4: 19-29, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711730</a>] [<a href="https://doi.org/10.1093/hmg/4.1.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711730">Verderio et al. (1995)</a> identified a 665C-A transversion in exon 1 of the CPT2 gene, resulting in a pro50-to-his (P50H) substitution. This amino acid substitution occurred within a leucine-proline motif that is highly conserved in acyltransferases from different species. The mutation was detected in both alleles of a patient of Italian ancestry and in 1 allele of 1 patient each of Italian, Dutch, and French ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711730" 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="#31" class="mim-tip-reference" title="Vladutiu, G. D., Quackenbush, E. J., Hainline, B. E., Albers, S., Smail, D. S., Bennett, M. J. <strong>Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.</strong> J. Pediat. 141: 734-736, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12410208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12410208</a>] [<a href="https://doi.org/10.1067/mpd.2002.128545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12410208">Vladutiu et al. (2002)</a> reported a male infant of mixed heritage with the late infantile form of CPT II (<a href="/entry/600649">600649</a>) who was compound heterozygous for the P50H mutation and for a truncating 2-bp deletion (see <a href="#0009">600650.0009</a>). He presented at age 11 months with hypoglycemia, vomiting, and lethargy after a febrile illness. Dietary management was successful, and he was normal appearing at age 5 years. CPT II activity in fibroblasts was 17% of normal. <a href="#31" class="mim-tip-reference" title="Vladutiu, G. D., Quackenbush, E. J., Hainline, B. E., Albers, S., Smail, D. S., Bennett, M. J. <strong>Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.</strong> J. Pediat. 141: 734-736, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12410208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12410208</a>] [<a href="https://doi.org/10.1067/mpd.2002.128545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12410208">Vladutiu et al. (2002)</a> noted that the P50H mutation is usually associated with late-onset disease and postulated that compound heterozygosity for a mild and a severe CPT2 mutation causes an intermediate phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12410208" 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>.0004 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28936376 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28936376;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/rs28936376?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=rs28936376" 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=rs28936376" 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=RCV000009513 OR RCV000675130 OR RCV004766994" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009513, RCV000675130, RCV004766994" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009513...</a>
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<p>In a patient of Italian ancestry with the myopathic form of CPT II deficiency (<a href="/entry/255110">255110</a>), <a href="#29" class="mim-tip-reference" title="Verderio, E., Cavadini, P., Montermini, L., Wang, H., Lamantea, E., Finocchiaro, G., DiDonato, S., Gellera, C., Taroni, F. <strong>Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.</strong> Hum. Molec. Genet. 4: 19-29, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711730</a>] [<a href="https://doi.org/10.1093/hmg/4.1.19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711730">Verderio et al. (1995)</a> identified compound heterozygosity for 2 mutations in the CPT2 gene: a 2173G-A transition in exon 5, resulting in an asp553-to-asn (D553N) substitution, and S113L (<a href="#0002">600650.0002</a>). Immunoblot analysis demonstrated that both mutations were associated with a markedly reduced steady-state level of the protein, indicating decreased stability of the mutant gene product. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711730" 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>.0005 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28936673 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28936673;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/rs28936673?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=rs28936673" 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=rs28936673" 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=RCV000009514 OR RCV000202449 OR RCV000415611" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009514, RCV000202449, RCV000415611" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009514...</a>
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<p>In an infant with the infantile form of CPT II deficiency (<a href="/entry/600649">600649</a>) originally reported by <a href="#7" class="mim-tip-reference" title="Demaugre, F., Bonnefont, J.-P., Colonna, M., Cepanec, C., Leroux, J.-P., Saudubray, J.-M. <strong>Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death: physiopathological approach to carnitine palmitoyltransferase II deficiencies.</strong> J. Clin. Invest. 87: 859-864, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999498</a>] [<a href="https://doi.org/10.1172/JCI115090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1999498">Demaugre et al. (1991)</a>, <a href="#4" class="mim-tip-reference" title="Bonnefont, J.-P., Taroni, F., Cavadini, P., Cepanec, C., Brivet, M., Saudubray, J.-M., Leroux, J.-P., Demaugre, F. <strong>Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.</strong> Am. J. Hum. Genet. 58: 971-978, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651281</a>]" pmid="8651281">Bonnefont et al. (1996)</a> identified a homozygous 2399A-C transversion in the CPT2 gene, resulting in a tyr628-to-ser (Y628S) substitution. In vitro functional analysis in fibroblasts showed that the Y628S mutation resulted in 10% CPT II residual activity and markedly impaired oxidation of long-chain fatty acids, whereas the S113L (<a href="#0002">600650.0002</a>) mutation found in the less severe myopathic form of the disorder (<a href="/entry/255110">255110</a>) resulted in 20% CPT II residual activity, without consequence on LCFA oxidation. <a href="#4" class="mim-tip-reference" title="Bonnefont, J.-P., Taroni, F., Cavadini, P., Cepanec, C., Brivet, M., Saudubray, J.-M., Leroux, J.-P., Demaugre, F. <strong>Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.</strong> Am. J. Hum. Genet. 58: 971-978, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651281</a>]" pmid="8651281">Bonnefont et al. (1996)</a> concluded that CPT II activity must be reduced below a critical threshold for LCFA oxidation in fibroblasts to be impaired. This critical threshold differs among tissues, thus providing a basis for the phenotypic heterogeneity of CPT II deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8651281+1999498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Martin, M. A., Rubio, J. C., De Bustos, F., Del Hoyo, P., Campos, Y., Garcia, A., Bornstein, B., Cabello, A., Arenas, J. <strong>Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency.</strong> Muscle Nerve 22: 941-943, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10398215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10398215</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199907)22:7<941::aid-mus20>3.0.co;2-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10398215">Martin et al. (1999)</a> reported a patient with the myopathic form of CPT II deficiency who had the Y628S mutation on 1 allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10398215" 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>.0006 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28936674 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28936674;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/rs28936674?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=rs28936674" 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=rs28936674" 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=RCV000009516 OR RCV000202437 OR RCV003473064" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009516, RCV000202437, RCV003473064" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009516...</a>
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<p>In 2 Japanese sibs with the infantile form of CPT II deficiency (<a href="/entry/600649">600649</a>), <a href="#34" class="mim-tip-reference" title="Yamamoto, S., Abe, H., Kohgo, T., Ogawa, A., Ohtake, A., Hayashibe, H., Sakuraba, H., Suzuki, Y., Aramaki, S., Takayanagi, M., Hasegawa, S., Niimi, H. <strong>Two novel gene mutations (glu174-to-lys, phe383-to-tyr) causing the 'hepatic' form of carnitine palmitoyltransferase II deficiency.</strong> Hum. Genet. 98: 116-118, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8682496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8682496</a>] [<a href="https://doi.org/10.1007/s004390050170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8682496">Yamamoto et al. (1996)</a> identified compound heterozygosity for 2 mutations in the CPT2 gene: a 621G-A transition resulting in a glu174-to-lys (E174K) substitution, and a 1249T-A transversion resulting in a phe383-to-tyr (F383Y; <a href="#0007">600650.0007</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8682496" 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 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs74315295 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315295;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/rs74315295?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=rs74315295" 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=rs74315295" 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=RCV000009517 OR RCV000009518 OR RCV000202462 OR RCV000411002 OR RCV000762943 OR RCV001004159 OR RCV001270097 OR RCV003473065" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009517, RCV000009518, RCV000202462, RCV000411002, RCV000762943, RCV001004159, RCV001270097, RCV003473065" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009517...</a>
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<p>For discussion of the phe383-to-tyr (F838Y) mutation in the CPT2 gene that was found in compound heterozygous state in 2 Japanese patients with infantile CPT II deficiency (<a href="/entry/600649">600649</a>) by <a href="#34" class="mim-tip-reference" title="Yamamoto, S., Abe, H., Kohgo, T., Ogawa, A., Ohtake, A., Hayashibe, H., Sakuraba, H., Suzuki, Y., Aramaki, S., Takayanagi, M., Hasegawa, S., Niimi, H. <strong>Two novel gene mutations (glu174-to-lys, phe383-to-tyr) causing the 'hepatic' form of carnitine palmitoyltransferase II deficiency.</strong> Hum. Genet. 98: 116-118, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8682496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8682496</a>] [<a href="https://doi.org/10.1007/s004390050170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8682496">Yamamoto et al. (1996)</a>, see <a href="#0006">600650.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8682496" 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="Aoki, J., Yasuno, T., Sugie, H., Kido, H., Nishino, I., Shigematsu, Y., Kanazawa, M., Takayanagi, M., Kumami, M., Endo, K., Kaneoka, H., Yamaguchi, M., Fukuda, T., Yamamoto, T. <strong>A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation.</strong> Neurology 69: 804-805, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17709715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17709715</a>] [<a href="https://doi.org/10.1212/01.wnl.0000267665.44477.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17709715">Aoki et al. (2007)</a> reported a 21-year-old Japanese woman with the myopathic form of CPT II deficiency (<a href="/entry/255110">255110</a>) associated with a homozygous F383Y mutation. At age 19 and again at age 21, she had episodes of myalgia, dark urine, and increased serum creatine kinase during viral illnesses. Residual CPT2 activity ranged from 2 to 7% of normal controls, which the authors noted was usually associated with the more severe form of the disorder. Family history revealed a brother and sister who both died as infants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17709715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs74315296 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315296;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/rs74315296?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=rs74315296" 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=rs74315296" 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=RCV000009519 OR RCV000202513 OR RCV001004160 OR RCV002490348 OR RCV003317032 OR RCV003450624 OR RCV003473066" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009519, RCV000202513, RCV001004160, RCV002490348, RCV003317032, RCV003450624, RCV003473066" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009519...</a>
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<p>Vladutiu et al. (<a href="#32" class="mim-tip-reference" title="Vladutiu, G. D., Taggart, R. T., Smail, D., Lindsley, H. B., Hogan, K. <strong>A carnitine palmitoyl transferase II (CPT2) arg503cys mutation confers malignant hyperthermia and variable myopathy. (Abstract)</strong> Am. J. Hum. Genet. 63 (suppl.): A5 only, 1998."None>1998</a>, <a href="#30" class="mim-tip-reference" title="Vladutiu, G. D., Bennett, M. J., Smail, D., Wong, L.-J., Taggart, R. T., Lindsley, H. B. <strong>A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene.</strong> Molec. Genet. Metab. 70: 134-141, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10873395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10873395</a>] [<a href="https://doi.org/10.1006/mgme.2000.3009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10873395">2000</a>) reported a family in which a woman, her father, and her son were heterozygous for an arg503-to-cys (R503C) mutation in a highly conserved region of the CPT2 gene. Sequence analysis showed no other change in CPT2. The 54-year-old mother had a 35-year history of progressive muscle weakness and myopathic symptoms associated with reduced CPT II activity (<a href="/entry/255110">255110</a>) in lymphoblasts (47% of normal), fibroblasts (43%), and skeletal muscle (13%). Her 26-year-old son had a lifelong history of myopathic symptoms, whereas his grandfather had only mild weakness during childhood. The son had survived an episode of malignant hyperthermia during surgery at 4 years of age, during which CPK went to values greater than 5,000 mU/mL. Analysis of the V368I and M647V polymorphisms (see <a href="#0001">600650.0001</a>) in the CPT2 gene showed that the mutant allele was linked to 368I and 647M in this family, and that the normal allele was linked to 647V in the affected patient and her son and to 647M in the patient's father. In common with malignant hyperthermia-associated mutations affecting skeletal muscle in the RYR1 (<a href="/entry/180901">180901</a>) and CACNL1A3 (<a href="/entry/114208">114208</a>) genes, the clinical, biochemical, and genetic evidence in this family suggested that the R503C substitution in CPT2 may cause a latent myopathy that becomes apparent only after specific anesthetic exposure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10873395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED</strong>
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CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL, INCLUDED<br />
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CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE, INCLUDED
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CPT2, 2-BP DEL, 1237AG AND PHE448LEU
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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> rs397509431 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509431;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/rs397509431?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=rs397509431" 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=rs397509431" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <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> rs74315297 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315297;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/rs74315297?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=rs74315297" 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=rs74315297" 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=RCV000009520 OR RCV000178040 OR RCV000185837 OR RCV000202478 OR RCV000202516 OR RCV000202553 OR RCV000430397 OR RCV000576522 OR RCV001810398 OR RCV002225079 OR RCV002490673 OR RCV003474675" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009520, RCV000178040, RCV000185837, RCV000202478, RCV000202516, RCV000202553, RCV000430397, RCV000576522, RCV001810398, RCV002225079, RCV002490673, RCV003474675" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009520...</a>
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<p><a href="#24" class="mim-tip-reference" title="Taggart, R. T., Smail, D., Apolito, C., Vladutiu, G. D. <strong>Novel mutations associated with carnitine palmitoyltransferase II deficiency.</strong> Hum. Mutat. 13: 210-220, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090476</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10090476">Taggart et al. (1999)</a> reported 4 Ashkenazi Jewish patients with late-onset CPT II deficiency (<a href="/entry/255110">255110</a>) who were compound heterozygous for a CPT2 allele with a 2-bp deletion, which they termed 413delAG, and a phe448-to-leu (F448L) substitution, and for the S113L (<a href="#0002">600650.0002</a>) mutation. The 2-bp deletion causes a premature termination codon at residue 420; thus, the F448L change is not contained within the truncated protein and does not have functional significance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10090476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Elpeleg, O. N., Hammerman, C., Saada, A., Shaag, A., Golzand, E., Hochner-Celnikier, D., Berger, I., Nadjari, M. <strong>Antenatal presentation of carnitine palmitoyltransferase II deficiency.</strong> Am. J. Med. Genet. 102: 183-187, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11477613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11477613</a>] [<a href="https://doi.org/10.1002/ajmg.1457" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11477613">Elpeleg et al. (2001)</a> reported 2 Ashkenazi Jewish sibs with the antenatal form of CPT II deficiency (<a href="/entry/608836">608836</a>) who were homozygous for the allele carrying the 2 mutations in exon 4 of the CPT2 gene; the 1-bp deletion, which they termed 1237delAG, and the F448L mutation. Both sibs had periventricular calcifications and markedly enlarged kidneys found in the fifth gestational month. Activity of CPT II in lymphocytes was undetectable. The 1237delAG mutation was predicted to result in a truncated protein at 65% of its normal length. Referring to the findings of <a href="#24" class="mim-tip-reference" title="Taggart, R. T., Smail, D., Apolito, C., Vladutiu, G. D. <strong>Novel mutations associated with carnitine palmitoyltransferase II deficiency.</strong> Hum. Mutat. 13: 210-220, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090476</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10090476">Taggart et al. (1999)</a>, <a href="#9" class="mim-tip-reference" title="Elpeleg, O. N., Hammerman, C., Saada, A., Shaag, A., Golzand, E., Hochner-Celnikier, D., Berger, I., Nadjari, M. <strong>Antenatal presentation of carnitine palmitoyltransferase II deficiency.</strong> Am. J. Med. Genet. 102: 183-187, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11477613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11477613</a>] [<a href="https://doi.org/10.1002/ajmg.1457" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11477613">Elpeleg et al. (2001)</a> suggested that this allele is common in the Ashkenazi Jewish population. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10090476+11477613" 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="#31" class="mim-tip-reference" title="Vladutiu, G. D., Quackenbush, E. J., Hainline, B. E., Albers, S., Smail, D. S., Bennett, M. J. <strong>Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.</strong> J. Pediat. 141: 734-736, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12410208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12410208</a>] [<a href="https://doi.org/10.1067/mpd.2002.128545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12410208">Vladutiu et al. (2002)</a> reported a male infant of mixed heritage with the late infantile form of CPT II (<a href="/entry/600649">600649</a>) and episodic hypoglycemia who was compound heterozygous for the 2-bp deletion and the P50H (<a href="#0003">600650.0003</a>) mutation. A male infant of Ashkenazi Jewish descent with the lethal neonatal form of CPT II was compound heterozygous for the 2-bp deletion and a 3-bp deletion/5-bp insertion (<a href="#0014">600650.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12410208" 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 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs515726173 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs515726173;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/rs515726173?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=rs515726173" 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=rs515726173" 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=RCV000202494 OR RCV000414700 OR RCV002274921 OR RCV003398720 OR RCV003474723" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000202494, RCV000414700, RCV002274921, RCV003398720, RCV003474723" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000202494...</a>
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<p>In a Moroccan family in which 4 sibs died from neonatal CPT II deficiency (<a href="/entry/608836">608836</a>), <a href="#23" class="mim-tip-reference" title="Smeets, R. J. P., Smeitink, J. A. M., Semmekrot, B. A., Scholte, H. R., Wanders, R. J. A., van den Heuvel, L. P. W. J. <strong>A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.</strong> J. Hum. Genet. 48: 8-13, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12560872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12560872</a>] [<a href="https://doi.org/10.1007/s100380300001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12560872">Smeets et al. (2003)</a> identified a novel splice site mutation in the CPT2 gene: a G-to-A transition in the splice acceptor site of intron 2 (IVS2-1G-A; <a href="#0011">600650.0011</a>). Studies at the mRNA level indicated that the affected children were homozygous for an insertion of a threonine at codon 534 (534insT) followed by a 25-bp deletion (bases 534-558). Studies of genomic DNA, however, revealed all patients were compound heterozygous for this 534insT/del25 mutation, and, on the other allele, for the novel splice site mutation. The findings underscored the incompleteness of mutation detection at the mRNA level in cases where a mutation leads to aberrant splicing or nonsense-mediated messenger decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12560872" 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">rs1557713988 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1557713988;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=rs1557713988" 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=rs1557713988" 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=RCV000009524" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009524" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009524</a>
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<p>For discussion of the splice site mutation (IVS2-1G-A) in the CPT2 gene that was found in compound heterozygous state in sibs with neonatal CPT II deficiency (<a href="/entry/608836">608836</a>) by <a href="#23" class="mim-tip-reference" title="Smeets, R. J. P., Smeitink, J. A. M., Semmekrot, B. A., Scholte, H. R., Wanders, R. J. A., van den Heuvel, L. P. W. J. <strong>A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.</strong> J. Hum. Genet. 48: 8-13, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12560872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12560872</a>] [<a href="https://doi.org/10.1007/s100380300001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12560872">Smeets et al. (2003)</a>, see <a href="#0010">600650.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12560872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL</strong>
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<p>In 2 sibs with lethal neonatal CPT II deficiency (<a href="/entry/608836">608836</a>) originally reported by <a href="#33" class="mim-tip-reference" title="Witt, S. R., Theobald, M., Santa-Maria, M., Packman, S., Townsend, S., Sweetman, L., Goodman, S., Rhead, W., Hoppel, C. <strong>Carnitine palmitoyl transferase-type 2 deficiency: two new cases and successful prenatal diagnosis. (Abstract)</strong> Am. J. Hum. Genet. 49 (suppl.): A109 only, 1991."None>Witt et al. (1991)</a>, <a href="#12" class="mim-tip-reference" title="Gellera, C., Witt, D. R., Verderio, E., Cavadini, P., DiDonato, S., Taroni, F. <strong>Molecular study of lethal neonatal carnitine palmitoyltransferase II (CPT II) deficiency. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A168 only, 1992."None>Gellera et al. (1992)</a> identified a heterozygous 11-bp insertion mutation in exon 4 of the CPT2 gene (nucleotides 997-1007). The insertion results in a premature termination signal predicted to truncated the CPT2 protein by approximately 350 amino acids at the C terminus. The unaffected mother carried the insertion mutation, but the father had only wildtype alleles; <a href="#12" class="mim-tip-reference" title="Gellera, C., Witt, D. R., Verderio, E., Cavadini, P., DiDonato, S., Taroni, F. <strong>Molecular study of lethal neonatal carnitine palmitoyltransferase II (CPT II) deficiency. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A168 only, 1992."None>Gellera et al. (1992)</a> concluded that an additional, unidentified CPT2 mutation was present in the affected sibs. Cultured fibroblasts from the patients showed a 92% reduction in CPT II activity and virtual absence of the protein, indicating that complete CPT2 deficiency is a lethal condition.</p>
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<strong>.0013 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs74315298 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315298;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/rs74315298?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=rs74315298" 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=rs74315298" 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=RCV000009526 OR RCV000185840 OR RCV000202466 OR RCV000576348 OR RCV002496314 OR RCV003473067 OR RCV003934818" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009526, RCV000185840, RCV000202466, RCV000576348, RCV002496314, RCV003473067, RCV003934818" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009526...</a>
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<p>In a premature Haitian infant with neonatal lethal CPT II deficiency (<a href="/entry/608836">608836</a>), <a href="#25" class="mim-tip-reference" title="Taroni, F., Gellera, C., Cavadini, P., Baratta, S., Lamantea, E., Dethlefs, S., DiDonato, S., Reik, R. A., Benke, P. J. <strong>Lethal carnitine palmitoyltransferase (CPT) II deficiency in newborns: a molecular-genetic study. (Abstract)</strong> Am. J. Hum. Genet. 55 (suppl.): A245 only, 1994."None>Taroni et al. (1994)</a> identified a homozygous mutation in exon 4 of the CPT2 gene, resulting in a pro227-to-leu (P227L) substitution. No CPT2 protein was detected by Western blot analysis of fibroblasts, and in vitro analysis demonstrated normal amounts of newly synthesized CPT II, suggesting decreased enzyme stability. CPT II residual activity was measured at less than 15% of normal control values. The parents were heterozygous for the mutation.</p><p><a href="#14" class="mim-tip-reference" title="Isackson, P. J., Bennett, M. J., Lichter-Konecki, U., Willis, M., Nyhan, W. L., Sutton, V. R., Tein, I., Vladutiu, G. D. <strong>CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.</strong> Molec. Genet. Metab. 94: 422-427, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550408</a>] [<a href="https://doi.org/10.1016/j.ymgme.2008.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18550408">Isackson et al. (2008)</a> identified a homozygous P227L mutation in an African American patient with lethal neonatal CPT II deficiency. The infant appeared normal at birth but developed hypoglycemia in the nursery. She also had heart block, polycystic kidneys, and seizures, and died at age 14 days. Laboratory studies showed significantly increased plasma carnitine species. <a href="#14" class="mim-tip-reference" title="Isackson, P. J., Bennett, M. J., Lichter-Konecki, U., Willis, M., Nyhan, W. L., Sutton, V. R., Tein, I., Vladutiu, G. D. <strong>CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.</strong> Molec. Genet. Metab. 94: 422-427, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550408</a>] [<a href="https://doi.org/10.1016/j.ymgme.2008.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18550408">Isackson et al. (2008)</a> noted that the P227L substitution is located at the C-terminal end of the beta-2 strand. The authors postulated that the mutation affects enzyme stability, since the affected residue is not near the active site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18550408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs754363068 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs754363068;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/rs754363068?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=rs754363068" 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=rs754363068" 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=RCV000409793 OR RCV000410888 OR RCV000411956 OR RCV001042031 OR RCV001570857 OR RCV003475976 OR RCV004975496 OR RCV005018705" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000409793, RCV000410888, RCV000411956, RCV001042031, RCV001570857, RCV003475976, RCV004975496, RCV005018705" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000409793...</a>
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<p>In a male infant of Ashkenazi Jewish descent with the lethal neonatal form of CPT II (<a href="/entry/608836">608836</a>) first reported by <a href="#1" class="mim-tip-reference" title="Albers, S., Marsden, D., Quackenbush, E., Stark, A. R., Levy, H. L., Irons, M. <strong>Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry.</strong> Pediatrics 107: E103, 2001. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11389301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11389301</a>] [<a href="https://doi.org/10.1542/peds.107.6.e103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11389301">Albers et al. (2001)</a>, <a href="#31" class="mim-tip-reference" title="Vladutiu, G. D., Quackenbush, E. J., Hainline, B. E., Albers, S., Smail, D. S., Bennett, M. J. <strong>Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.</strong> J. Pediat. 141: 734-736, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12410208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12410208</a>] [<a href="https://doi.org/10.1067/mpd.2002.128545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12410208">Vladutiu et al. (2002)</a> identified compound heterozygosity for a 2-bp deletion (see <a href="#0009">600650.0009</a>) and a 109AGC-GCAGC change (3-bp deletion and 5-bp insertion) in the CPT2 gene. The infant died on the third day of life; CPT II activity was 6% and 18% of normal in fibroblasts and skeletal muscle, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12410208+11389301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0015 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs74315299 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315299;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=rs74315299" 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=rs74315299" 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=RCV000009528 OR RCV001851765" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009528, RCV001851765" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009528...</a>
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<p><a href="#20" class="mim-tip-reference" title="Orngreen, M. C., Duno, M., Ejstrup, R., Christensen, E., Schwartz, M., Sacchetti, M., Vissing, J. <strong>Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.</strong> Ann. Neurol. 57: 60-66, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15622536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15622536</a>] [<a href="https://doi.org/10.1002/ana.20320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15622536">Orngreen et al. (2005)</a> identified a heterozygous glu454-to-ter (E454X) mutation in the CPT2 gene in a man who had experienced an episode of rhabdomyolysis after ingestion of alcohol and no food the night before a swimming practice. Residual CPT2 enzyme activity was 46% of normal control values, and biochemical studies indicated impaired fatty acid oxidation with prolonged exercise, which is consistent with stress-induced myopathic CPT II deficiency (<a href="/entry/255110">255110</a>). <a href="#20" class="mim-tip-reference" title="Orngreen, M. C., Duno, M., Ejstrup, R., Christensen, E., Schwartz, M., Sacchetti, M., Vissing, J. <strong>Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.</strong> Ann. Neurol. 57: 60-66, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15622536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15622536</a>] [<a href="https://doi.org/10.1002/ana.20320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15622536">Orngreen et al. (2005)</a> suggested that the E454X truncated CPT2 protein may be incorporated into the tetrameric structure of the enzyme complex, resulting in a dominant-negative effect, and that some heterozygous carriers of CPT2 mutations may be symptomatic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15622536" 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>.0016 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs74315300 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315300;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=rs74315300" 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=rs74315300" 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=RCV000009529 OR RCV003581557" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009529, RCV003581557" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009529...</a>
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<p><a href="#20" class="mim-tip-reference" title="Orngreen, M. C., Duno, M., Ejstrup, R., Christensen, E., Schwartz, M., Sacchetti, M., Vissing, J. <strong>Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.</strong> Ann. Neurol. 57: 60-66, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15622536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15622536</a>] [<a href="https://doi.org/10.1002/ana.20320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15622536">Orngreen et al. (2005)</a> identified a heterozygous asp213-to-gly (D213G) mutation in the CPT2 gene in a woman with exercise intolerance and muscle cramps. Residual CPT2 enzyme activity was 65% of normal control values, and biochemical studies indicated impaired fatty acid oxidation with prolonged exercise, which is consistent with stress-induced myopathic CPT II deficiency (<a href="/entry/255110">255110</a>). The D213G substitution occurs in a highly conserved domain of the protein, and the authors suggested that the change may compromise normal enzyme function. The woman had 2 children with myopathic CPT II deficiency caused by compound heterozygous mutations in the CPT2 gene: D213G and S113L (<a href="#0002">600650.0002</a>). The asymptomatic father was heterozygous for the S113L mutation. <a href="#20" class="mim-tip-reference" title="Orngreen, M. C., Duno, M., Ejstrup, R., Christensen, E., Schwartz, M., Sacchetti, M., Vissing, J. <strong>Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.</strong> Ann. Neurol. 57: 60-66, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15622536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15622536</a>] [<a href="https://doi.org/10.1002/ana.20320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15622536">Orngreen et al. (2005)</a> suggested that some heterozygous carriers of CPT2 mutations may be symptomatic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15622536" 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>.0017 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918528 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918528;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/rs121918528?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=rs121918528" 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=rs121918528" 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=RCV000009530 OR RCV000202546 OR RCV000408956 OR RCV000409888 OR RCV000762942 OR RCV001781212 OR RCV003473068" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009530, RCV000202546, RCV000408956, RCV000409888, RCV000762942, RCV001781212, RCV003473068" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009530...</a>
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<p>In a patient with infantile CPT II deficiency (<a href="/entry/600649">600649</a>), <a href="#14" class="mim-tip-reference" title="Isackson, P. J., Bennett, M. J., Lichter-Konecki, U., Willis, M., Nyhan, W. L., Sutton, V. R., Tein, I., Vladutiu, G. D. <strong>CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.</strong> Molec. Genet. Metab. 94: 422-427, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550408</a>] [<a href="https://doi.org/10.1016/j.ymgme.2008.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18550408">Isackson et al. (2008)</a> identified a homozygous 359A-G transition in the CPT2 gene, resulting in a tyr120-to-cys (Y120C) substitution. The location of the mutation was predicted to interfere with the active site. CPT2 activity was 2.5% of control values. The patient presented at age 15 months following a febrile episode with hypoglycemic encephalopathy and hepatomegaly. There was complete neurologic recovery, and the patient did well with proper treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18550408" 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> rs1799821 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1799821;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/rs1799821?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=rs1799821" 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=rs1799821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <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> rs2229291 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2229291;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/rs2229291?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=rs2229291" 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=rs2229291" 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=RCV000023026 OR RCV000078115 OR RCV000078116 OR RCV000202443 OR RCV000202483 OR RCV000444353 OR RCV000578014 OR RCV000711317 OR RCV001533571 OR RCV001533572 OR RCV003452999 OR RCV003453000 OR RCV003453001 OR RCV003456002 OR RCV003974955 OR RCV003982874" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023026, RCV000078115, RCV000078116, RCV000202443, RCV000202483, RCV000444353, RCV000578014, RCV000711317, RCV001533571, RCV001533572, RCV003452999, RCV003453000, RCV003453001, RCV003456002, RCV003974955, RCV003982874" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023026...</a>
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<p><a href="#6" class="mim-tip-reference" title="Chen, Y., Mizuguchi, H., Yao, D., Ide, M., Kuroda, Y., Shigematsu, Y., Yamaguchi, S., Yamaguchi, M., Kinoshita, M., Kido, H. <strong>Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.</strong> FEBS Lett. 579: 2040-2044, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15811315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15811315</a>] [<a href="https://doi.org/10.1016/j.febslet.2005.02.050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15811315">Chen et al. (2005)</a> found an association between 2 thermolabile polymorphisms in the CPT2 gene and susceptibility to infection-induced acute encephalopathy-4 (IIAE4; <a href="/entry/614212">614212</a>) in Japanese children. The variants were a 1055T-G transversion, resulting in a phe352-to-cys (F352C) substitution (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2229291;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2229291</a>), and a 1102G-A transition, resulting in a val368-to-ile (V368I) substitution (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1799821;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1799821</a>). Four (30.8%) of 13 patients with the disorder carried these alleles, compared to 6 (7.6%) of 79 controls (p less than 0.025). In vitro functional studies in COS-7 cells showed that the 352C/368I allele had significantly reduced activity (34.7% compared to wildtype) at 37 degrees C, and was decreased even more at 41 degrees C (less than 30% of wildtype at 37 degrees). The 352C/368V allele showed less severely decreased activity (62.8% of wildtype) at 37 degrees C, with again a further decrease at 41 degrees C. <a href="#6" class="mim-tip-reference" title="Chen, Y., Mizuguchi, H., Yao, D., Ide, M., Kuroda, Y., Shigematsu, Y., Yamaguchi, S., Yamaguchi, M., Kinoshita, M., Kido, H. <strong>Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.</strong> FEBS Lett. 579: 2040-2044, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15811315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15811315</a>] [<a href="https://doi.org/10.1016/j.febslet.2005.02.050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15811315">Chen et al. (2005)</a> noted that the allelic frequency of F352C in Japan is 0.21, and that this variant has not been reported in Caucasians. The allelic frequency of V368I is 0.70 in Japan and 0.51 in southern European populations. Viral-associated encephalopathy is characterized by a high-grade fever accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, and high morbidity and mortality. <a href="#6" class="mim-tip-reference" title="Chen, Y., Mizuguchi, H., Yao, D., Ide, M., Kuroda, Y., Shigematsu, Y., Yamaguchi, S., Yamaguchi, M., Kinoshita, M., Kido, H. <strong>Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.</strong> FEBS Lett. 579: 2040-2044, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15811315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15811315</a>] [<a href="https://doi.org/10.1016/j.febslet.2005.02.050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15811315">Chen et al. (2005)</a> concluded that their findings suggest that a continuous high-grade fever, often accompanied by fasting, causes a systemic and metabolic energy crisis in patients with thermolabile polymorphic variations in the CPT2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15811315" 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 vitro studies by <a href="#35" class="mim-tip-reference" title="Yao, D., Mizuguchi, H., Yamaguchi, M., Yamada, H., Chida, J., Shikata, K., Kido, H. <strong>Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.</strong> Hum. Mutat. 29: 718-727, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18306170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18306170</a>] [<a href="https://doi.org/10.1002/humu.20717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18306170">Yao et al. (2008)</a> demonstrated that the F352C/V368I variant proteins exerted a dominant-negative effect on the CPT2 homotetramer and had shortened half-lives compared to wildtype, consistent with intracellular instability. The studies also confirmed thermolability, with attenuated CPT2 activity associated with decreased ATP levels at higher temperatures. <a href="#35" class="mim-tip-reference" title="Yao, D., Mizuguchi, H., Yamaguchi, M., Yamada, H., Chida, J., Shikata, K., Kido, H. <strong>Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.</strong> Hum. Mutat. 29: 718-727, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18306170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18306170</a>] [<a href="https://doi.org/10.1002/humu.20717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18306170">Yao et al. (2008)</a> hypothesized that ATP depletion may cause increased blood-brain barrier permeability and contribute to cerebral edema in affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18306170" 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 29 Japanese patients with infection-induced acute encephalopathy, <a href="#21" class="mim-tip-reference" title="Shinohara, M., Saitoh, M., Takanashi, J., Yamanouchi, H., Kubota, M., Goto, T., Kikuchi, M., Shiihara, T., Yamanaka, G., Mizuguchi, M. <strong>Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases.</strong> Brain Dev. 33: 512-517, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20934285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20934285</a>] [<a href="https://doi.org/10.1016/j.braindev.2010.09.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20934285">Shinohara et al. (2011)</a> found significantly higher frequency of the 352C variant in exon 4 of the CPT2 gene compared to controls (27.6 vs 13.5%, odds ratio of 2.44, p = 0.011). All patients with 352C had the 368I allele and the 647M allele (CIM haplotype). There was no difference in allele frequency between patients with a clinical diagnosis of acute necrotizing encephalopathy and those with acute encephalopathy with biphasic seizures and late reduced diffusion, and there was no correlation between good and poor prognosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20934285" 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="#16" class="mim-tip-reference" title="Mak, C. M., Lam, C., Fong, N., Siu, W., Lee, H. H., Siu, T., Lai, C., Law, C., Tong, S., Poon, W., Lam, D. S., Ng, H, Yuen, Y., Tam, S., Que, T., Kwong, N., Chan, A. Y. <strong>Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.</strong> J. Hum. Genet. 56: 617-621, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21697855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21697855</a>] [<a href="https://doi.org/10.1038/jhg.2011.63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21697855">Mak et al. (2011)</a> reported 2 unrelated Chinese boys from Hong Kong with fatal virally-induced acute encephalopathy. Both were heterozygous for F352C and homozygous for V368I. The infectious agents were Coxsackie virus group A in 1 patient and influenza A, subtype H1 in the other. Both patients had high fever, seizures, and rapid deterioration with cerebral edema and multiorgan failure. Plasma acylcarnitines were increased in all mutation carriers, including asymptomatic parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21697855" 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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|
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|
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|
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|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Albers2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Albers, S., Marsden, D., Quackenbush, E., Stark, A. R., Levy, H. L., Irons, M.
|
|
<strong>Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry.</strong>
|
|
Pediatrics 107: E103, 2001. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11389301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11389301</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11389301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1542/peds.107.6.e103" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Aoki2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Aoki, J., Yasuno, T., Sugie, H., Kido, H., Nishino, I., Shigematsu, Y., Kanazawa, M., Takayanagi, M., Kumami, M., Endo, K., Kaneoka, H., Yamaguchi, M., Fukuda, T., Yamamoto, T.
|
|
<strong>A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation.</strong>
|
|
Neurology 69: 804-805, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17709715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17709715</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17709715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.wnl.0000267665.44477.85" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Bieber1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bieber, L. L.
|
|
<strong>Carnitine.</strong>
|
|
Annu. Rev. Biochem. 57: 261-283, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3052273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3052273</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3052273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1146/annurev.bi.57.070188.001401" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Bonnefont1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bonnefont, J.-P., Taroni, F., Cavadini, P., Cepanec, C., Brivet, M., Saudubray, J.-M., Leroux, J.-P., Demaugre, F.
|
|
<strong>Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.</strong>
|
|
Am. J. Hum. Genet. 58: 971-978, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651281</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Britton1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Britton, C. H., Schultz, R. A., Zhang, B., Esser, V., Foster, D. W., McGarry, J. D.
|
|
<strong>Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.</strong>
|
|
Proc. Nat. Acad. Sci. 92: 1984-1988, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7892212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7892212</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7892212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.92.6.1984" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Chen2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chen, Y., Mizuguchi, H., Yao, D., Ide, M., Kuroda, Y., Shigematsu, Y., Yamaguchi, S., Yamaguchi, M., Kinoshita, M., Kido, H.
|
|
<strong>Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.</strong>
|
|
FEBS Lett. 579: 2040-2044, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15811315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15811315</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15811315" 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.febslet.2005.02.050" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Demaugre1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Demaugre, F., Bonnefont, J.-P., Colonna, M., Cepanec, C., Leroux, J.-P., Saudubray, J.-M.
|
|
<strong>Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death: physiopathological approach to carnitine palmitoyltransferase II deficiencies.</strong>
|
|
J. Clin. Invest. 87: 859-864, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999498</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1999498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI115090" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="DiDonato1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
DiDonato, S., Cornelio, F., Pacini, L., Peluchetti, D., Rimoldi, M., Spreafico, S.
|
|
<strong>Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts.</strong>
|
|
Ann. Neurol. 4: 465-467, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/736528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">736528</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=736528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410040513" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Elpeleg2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Elpeleg, O. N., Hammerman, C., Saada, A., Shaag, A., Golzand, E., Hochner-Celnikier, D., Berger, I., Nadjari, M.
|
|
<strong>Antenatal presentation of carnitine palmitoyltransferase II deficiency.</strong>
|
|
Am. J. Med. Genet. 102: 183-187, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11477613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11477613</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11477613" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1457" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Finocchiaro1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Finocchiaro, G., Taroni, F., Rocchi, M., Liras Martin, A., Colombo, I., Tarelli, G. T., DiDonato, S.
|
|
<strong>cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.</strong>
|
|
Proc. Nat. Acad. Sci. 88: 661-665, 1991. Note: Erratum: Proc. Nat. Acad. Sci. 88: 10981 only, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1988962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1988962</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1988962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.88.2.661" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Gellera1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gellera, C., Verderio, E., Floridia, G., Finocchiaro, G., Montermini, L., Cavadini, P., Zuffardi, O., Taroni, F.
|
|
<strong>Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32.</strong>
|
|
Genomics 24: 195-197, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7896283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7896283</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7896283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1994.1605" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Gellera1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gellera, C., Witt, D. R., Verderio, E., Cavadini, P., DiDonato, S., Taroni, F.
|
|
<strong>Molecular study of lethal neonatal carnitine palmitoyltransferase II (CPT II) deficiency. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 51 (suppl.): A168 only, 1992.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Handig1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Handig, I., Dams, E., Taroni, F., Van Laere, S., de Barsy, T., Willems, P. J.
|
|
<strong>Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency.</strong>
|
|
Hum. Genet. 97: 291-293, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786066</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF02185756" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Isackson2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Isackson, P. J., Bennett, M. J., Lichter-Konecki, U., Willis, M., Nyhan, W. L., Sutton, V. R., Tein, I., Vladutiu, G. D.
|
|
<strong>CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.</strong>
|
|
Molec. Genet. Metab. 94: 422-427, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18550408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ymgme.2008.05.002" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Joshi2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Joshi, P. R., Deschauer, M., Zierz, S.
|
|
<strong>Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.</strong>
|
|
Wien. Klin. Wochenschr. 124: 851-854, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23184072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23184072</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23184072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00508-012-0296-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Mak2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mak, C. M., Lam, C., Fong, N., Siu, W., Lee, H. H., Siu, T., Lai, C., Law, C., Tong, S., Poon, W., Lam, D. S., Ng, H, Yuen, Y., Tam, S., Que, T., Kwong, N., Chan, A. Y.
|
|
<strong>Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.</strong>
|
|
J. Hum. Genet. 56: 617-621, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21697855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21697855</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21697855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/jhg.2011.63" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Martin1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Martin, M. A., Rubio, J. C., De Bustos, F., Del Hoyo, P., Campos, Y., Garcia, A., Bornstein, B., Cabello, A., Arenas, J.
|
|
<strong>Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency.</strong>
|
|
Muscle Nerve 22: 941-943, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10398215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10398215</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10398215" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(sici)1097-4598(199907)22:7<941::aid-mus20>3.0.co;2-z" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Minoletti1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Minoletti, F., Colombo, I., Liras Martin, A., DiDonato, S., Taroni, F., Finocchiaro, G., Pandolfo, M.
|
|
<strong>Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization.</strong>
|
|
Genomics 13: 1372-1374, 1992. Note: Retraction: Genomics 24: 198 only, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1339389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1339389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1339389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(92)90076-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Montermini1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Montermini, L., Wang, H., Verderio, E., Taroni, F., DiDonato, S., Finocchiaro, G.
|
|
<strong>Identification of 5-prime regulatory regions of the human carnitine palmitoyltransferase II gene.</strong>
|
|
Biochim. Biophys. Acta 1219: 237-240, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8086471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8086471</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8086471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0167-4781(94)90280-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Orngreen2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Orngreen, M. C., Duno, M., Ejstrup, R., Christensen, E., Schwartz, M., Sacchetti, M., Vissing, J.
|
|
<strong>Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.</strong>
|
|
Ann. Neurol. 57: 60-66, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15622536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15622536</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15622536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.20320" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Shinohara2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shinohara, M., Saitoh, M., Takanashi, J., Yamanouchi, H., Kubota, M., Goto, T., Kikuchi, M., Shiihara, T., Yamanaka, G., Mizuguchi, M.
|
|
<strong>Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases.</strong>
|
|
Brain Dev. 33: 512-517, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20934285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20934285</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20934285" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.braindev.2010.09.002" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Slama1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Slama, A., Brivet, M., Boutron, A., Legrand, A., Saudubray, J.-M., Demaugre, F.
|
|
<strong>Complementation analysis of carnitine palmitoyltransferase I and II defects.</strong>
|
|
Pediat. Res. 40: 542-546, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8888280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8888280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8888280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1203/00006450-199610000-00005" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Smeets2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smeets, R. J. P., Smeitink, J. A. M., Semmekrot, B. A., Scholte, H. R., Wanders, R. J. A., van den Heuvel, L. P. W. J.
|
|
<strong>A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.</strong>
|
|
J. Hum. Genet. 48: 8-13, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12560872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12560872</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12560872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s100380300001" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Taggart1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Taggart, R. T., Smail, D., Apolito, C., Vladutiu, G. D.
|
|
<strong>Novel mutations associated with carnitine palmitoyltransferase II deficiency.</strong>
|
|
Hum. Mutat. 13: 210-220, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090476</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10090476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Taroni1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Taroni, F., Gellera, C., Cavadini, P., Baratta, S., Lamantea, E., Dethlefs, S., DiDonato, S., Reik, R. A., Benke, P. J.
|
|
<strong>Lethal carnitine palmitoyltransferase (CPT) II deficiency in newborns: a molecular-genetic study. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 55 (suppl.): A245 only, 1994.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Taroni1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Taroni, F., Verderio, E., Dworzak, F., Willems, P. J., Cavadini, P., DiDonato, S.
|
|
<strong>Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.</strong>
|
|
Nature Genet. 4: 314-320, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8358442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8358442</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8358442" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0793-314" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Taroni1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Taroni, F., Verderio, E., Fiorucci, S., Cavadini, P., Finocchiaro, G., Uziel, G., Lamantea, E., Gellera, C., DiDonato, S.
|
|
<strong>Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 8429-8433, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1528846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1528846</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1528846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.89.18.8429" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Thuillier2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Thuillier, L., Rostane, H., Droin, V., Demaugre, F., Brivet, M., Kadhom, N., Prip-Buus, C., Gobin, S., Saudubray, J.-M., Bonnefont, J.-P.
|
|
<strong>Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.</strong>
|
|
Hum. Mutat. 21: 493-501, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12673791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12673791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12673791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.10201" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Verderio1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Verderio, E., Cavadini, P., Montermini, L., Wang, H., Lamantea, E., Finocchiaro, G., DiDonato, S., Gellera, C., Taroni, F.
|
|
<strong>Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.</strong>
|
|
Hum. Molec. Genet. 4: 19-29, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711730</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/4.1.19" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Vladutiu2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vladutiu, G. D., Bennett, M. J., Smail, D., Wong, L.-J., Taggart, R. T., Lindsley, H. B.
|
|
<strong>A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene.</strong>
|
|
Molec. Genet. Metab. 70: 134-141, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10873395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10873395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10873395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/mgme.2000.3009" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Vladutiu2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vladutiu, G. D., Quackenbush, E. J., Hainline, B. E., Albers, S., Smail, D. S., Bennett, M. J.
|
|
<strong>Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.</strong>
|
|
J. Pediat. 141: 734-736, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12410208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12410208</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12410208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1067/mpd.2002.128545" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Vladutiu1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vladutiu, G. D., Taggart, R. T., Smail, D., Lindsley, H. B., Hogan, K.
|
|
<strong>A carnitine palmitoyl transferase II (CPT2) arg503cys mutation confers malignant hyperthermia and variable myopathy. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 63 (suppl.): A5 only, 1998.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Witt1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Witt, S. R., Theobald, M., Santa-Maria, M., Packman, S., Townsend, S., Sweetman, L., Goodman, S., Rhead, W., Hoppel, C.
|
|
<strong>Carnitine palmitoyl transferase-type 2 deficiency: two new cases and successful prenatal diagnosis. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 49 (suppl.): A109 only, 1991.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Yamamoto1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yamamoto, S., Abe, H., Kohgo, T., Ogawa, A., Ohtake, A., Hayashibe, H., Sakuraba, H., Suzuki, Y., Aramaki, S., Takayanagi, M., Hasegawa, S., Niimi, H.
|
|
<strong>Two novel gene mutations (glu174-to-lys, phe383-to-tyr) causing the 'hepatic' form of carnitine palmitoyltransferase II deficiency.</strong>
|
|
Hum. Genet. 98: 116-118, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8682496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8682496</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8682496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004390050170" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Yao2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yao, D., Mizuguchi, H., Yamaguchi, M., Yamada, H., Chida, J., Shikata, K., Kido, H.
|
|
<strong>Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.</strong>
|
|
Hum. Mutat. 29: 718-727, 2008.
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18306170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18306170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18306170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20717" target="_blank">Full Text</a>]
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</p>
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 02/06/2017
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/19/2011<br>Cassandra L. Kniffin - updated : 4/9/2009<br>Cassandra L. Kniffin - updated : 12/3/2007<br>Cassandra L. Kniffin - updated : 5/10/2005<br>Cassandra L. Kniffin - reorganized : 8/23/2004<br>Cassandra L. Kniffin - updated : 8/19/2004<br>Natalie E. Krasikov - updated : 8/10/2004<br>Victor A. McKusick - updated : 6/11/2003<br>Victor A. McKusick - updated : 2/11/2003<br>John A. Phillips, III - updated : 10/8/2002<br>Sonja A. Rasmussen - updated : 8/24/2001<br>Victor A. McKusick - updated : 2/15/2001<br>Victor A. McKusick - updated : 9/24/1999<br>Victor A. McKusick - updated : 10/26/1998<br>Victor A. McKusick - updated : 3/27/1998
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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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</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 : 7/26/1995
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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 : 03/15/2018
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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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alopez : 02/09/2018<br>carol : 02/07/2017<br>carol : 02/06/2017<br>carol : 12/29/2016<br>carol : 12/29/2016<br>joanna : 12/20/2016<br>carol : 04/22/2013<br>alopez : 3/20/2013<br>terry : 12/21/2012<br>mgross : 10/5/2012<br>terry : 10/10/2011<br>carol : 10/3/2011<br>ckniffin : 9/19/2011<br>terry : 4/7/2011<br>carol : 1/19/2011<br>wwang : 4/20/2009<br>ckniffin : 4/9/2009<br>wwang : 12/7/2007<br>ckniffin : 12/3/2007<br>wwang : 5/13/2005<br>ckniffin : 5/10/2005<br>carol : 8/25/2004<br>carol : 8/23/2004<br>ckniffin : 8/19/2004<br>terry : 8/10/2004<br>tkritzer : 6/24/2003<br>terry : 6/11/2003<br>carol : 2/20/2003<br>carol : 2/20/2003<br>tkritzer : 2/12/2003<br>terry : 2/11/2003<br>alopez : 10/8/2002<br>carol : 8/31/2001<br>mcapotos : 8/24/2001<br>cwells : 2/21/2001<br>terry : 2/15/2001<br>alopez : 10/25/1999<br>terry : 9/24/1999<br>carol : 5/18/1999<br>alopez : 10/26/1998<br>carol : 10/26/1998<br>psherman : 3/27/1998<br>dholmes : 3/6/1998<br>mark : 6/19/1996<br>terry : 6/11/1996<br>terry : 5/3/1996<br>terry : 4/30/1996<br>terry : 3/4/1996<br>terry : 3/4/1996<br>mark : 3/4/1996<br>mark : 3/4/1996<br>mark : 3/4/1996<br>mark : 3/4/1996<br>mark : 3/4/1996<br>terry : 2/20/1996<br>mimadm : 11/3/1995<br>mark : 7/26/1995
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<h3>
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<span class="mim-font">
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<strong>*</strong> 600650
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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CARNITINE PALMITOYLTRANSFERASE II; CPT2
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</span>
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</h3>
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<div>
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<br />
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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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<h4>
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<span class="mim-font">
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CPT II
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</span>
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</h4>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CPT2</em></strong>
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</span>
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</p>
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<strong>
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<em>
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Cytogenetic location: 1p32.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:53,196,824-53,214,197 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<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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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="4">
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<span class="mim-font">
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1p32.3
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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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{Encephalopathy, acute, infection-induced, 4, susceptibility to}
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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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614212
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant; Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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CPT II deficiency, infantile
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<td>
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<span class="mim-font">
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600649
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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<td>
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<span class="mim-font">
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CPT II deficiency, lethal neonatal
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</td>
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<td>
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<span class="mim-font">
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608836
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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CPT II deficiency, myopathic, stress-induced
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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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255110
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant; Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The CPT2 gene encodes carnitine palmitoyltransferase II, an enzyme that participates in fatty acid oxidation. The carnitine palmitoyltransferase (CPT; EC 2.3.1.21) enzyme system, in conjunction with acyl-CoA synthetase and carnitine/acylcarnitine translocase (613698), provides the mechanism whereby long-chain fatty acids are transferred from the cytosol to the mitochondrial matrix to undergo beta-oxidation. The CPT I isozymes (see CPT1A; 600528 and CPT1B; 601987) are located in the mitochondrial outer membrane and are detergent-labile, whereas CPT II is located in the inner mitochondrial membrane and is detergent-stable (Bieber, 1988). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By screening a human liver cDNA library, Finocchiaro et al. (1991) cloned and sequenced a cDNA encoding human carnitine palmitoyltransferase II. The deduced 658-amino acid protein contains a 25-residue NH2-terminal leader peptide. The amino acid sequence shows 82.2% homology with the rat CTP II protein. </p><p>Montermini et al. (1994) identified regulatory elements in the promoter of the CPT2 gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Verderio et al. (1995) determined that the CPT2 gene contains 5 exons spanning approximately 20 kb of DNA. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By human-hamster somatic cell hybridization, Finocchiaro et al. (1991) assigned the CPT2 gene (which they referred to as CPT1) to chromosome 1pter-q12. By fluorescence in situ hybridization, Minoletti et al. (1992) refined the assignment of the CPT2 gene to 1p13-p11. However, also using fluorescence in situ hybridization, Gellera et al. (1994) concluded that the CPT2 gene is located in band 1p32 and that the previously used probe that mapped the gene to 1p13-p11 'must be considered an as yet anonymous probe.' It is now clear that the gene mapped to chromosome 1p32 was CPT2. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Britton et al. (1995) distinguished CPT I and CPT II, and reported that major control over the fatty acid oxidation process is exerted at the level of CPT I by the unique inhibition of this enzyme by malonyl-CoA. </p><p>Slama et al. (1996) carried out complementation experiments between cell lines derived from patients with CPT I deficiency (255120) or infantile CPT II deficiency (600649) by measuring restoration of tritium release from palmitate. As expected, no complementation was observed in heteropolykaryons resulting from fusion of CPT I-deficient cells or of CPT II-deficient cells. Conversely, complementation was observed in fusions of CPT I- and CPT II-deficient cells. These data suggested that the defects in CPT I deficiency and infantile CPT II deficiency are determined by mutations in distinct genes. Palmitate oxidation by control or CPT I-deficient cell lines decreased when these cell lines were cocultured with infantile CPT II-deficient cell lines. This effect, not observed in a coculture with an adult CPT II-deficient cell line, was suppressed by a high carnitine concentration. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Finocchiaro et al. (1991), Minoletti et al. (1992), and Gellera et al. (1994) all referred to the CPT gene on chromosome 1 as CPT1; it is referred to here as CPT2 following the elucidation by Britton et al. (1995). CPT1 (600528) maps to chromosome 11. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Carnitine Palmitoyltransferase II Deficiency</em></strong></p><p>
|
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In a patient with infantile carnitine palmitoyltransferase II deficiency (600649) with hypoketotic hypoglycemia and cardiomyopathy, Taroni et al. (1992) identified a homozygous mutation in the CPT2 gene (600650.0001). The patient was also homozygous for a mutant CPT2 allele (termed the 'ICV' allele) that carried 2 other rare polymorphisms. In a patient with infantile CPT II deficiency reported by Demaugre et al. (1991), Bonnefont et al. (1996) identified a homozygous mutation in the CPT2 gene (600650.0005). </p><p>In a Dutch patient with the myopathic form of CPT II deficiency (255110), Taroni et al. (1993) identified compound heterozygosity for 2 mutations in the CPT2 gene (600650.0001; 600650.0002). </p><p>Elpeleg et al. (2001) reported 2 Ashkenazi Jewish sibs with the antenatal, or lethal neonatal, form of CPT II deficiency (608836) who were homozygous for an allele carrying 2 mutations in exon 4 of the CPT2 gene (600650.0009). </p><p>Isackson et al. (2008) identified compound heterozygous or homozygous mutations in the CPT2 gene in 3 patients with lethal neonatal CPT II deficiency (see, e.g., 600650.0013) and in 2 patients with infantile CPT II deficiency. Three of the mutations were novel (see, e.g., 600650.0017). </p><p>Orngreen et al. (2005) identified 2 unrelated patients with mild features of late-onset (myopathic) CPT II deficiency who each carried a single mutation in the CPT2 gene (600650.0015 and 600650.0016). The findings indicated that some heterozygous CPT2 mutation carriers may be symptomatic. </p><p><strong><em>Acute Infection-Induced Encephalopathy-4</em></strong></p><p>
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Chen et al. (2005) found that a Japanese girl with fatal acute infection-induced encephalopathy-4 (IIAE4; 614212) was heterozygous for a thermolabile allele in the CPT2 gene (600650.0018). She had significantly increased serum acylcarnitine levels during febrile convulsions. Her 2 unaffected brothers, who were heterozygous for the allele, and their father, who was homozygous for the allele, had slightly increased serum acylcarnitine compared to normal values in the nonfebrile state. The mother, who was heterozygous only for the 368I, had normal acylcarnitine levels in the nonfebrile state. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a study of 19 patients with CPT II deficiency, 13 with adult onset and 6 with infantile onset, Thuillier et al. (2003) found that all patients with the infantile form had mutations in exon 4 or 5 of the CPT2 gene. Twelve of the adult patients carried the S113L (600650.0002) mutation. Although there was an overlap in residual CPT II activity between the 2 groups (ranging from 4 to 12%), there was a significant decrease in palmitate oxidation in the infantile group (less than 10%) compared to the adult group (45 to 70%). Thuillier et al. (2003) concluded that both the type and location of CPT2 mutations and at least 1 additional, unidentified genetic factor modulate the long-chain fatty acid flux and therefore the severity of the disease. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>18 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE</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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CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED, INCLUDED
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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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CPT2, ARG631CYS
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<br />
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SNP: rs74315293,
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gnomAD: rs74315293,
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ClinVar: RCV000009508, RCV000202472, RCV000415574, RCV001781211, RCV002476950, RCV003473062
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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 infantile carnitine palmitoyltransferase II deficiency (600649), Taroni et al. (1992) identified homozygosity for a mutant CPT2 allele (termed the 'ICV' allele) that carried 3 missense changes: a 1203G-A transition predicting a val368-to-ile substitution (V368I); a 1992C-T transition predicting an arg631-to-cys substitution (R631C); and a 2040A-G transition predicting a met647-to-val substitution (M647V). Screening of 59 healthy controls demonstrated that both the V368I and M647V mutations are sequence polymorphisms with allele frequencies of 0.5 and 0.25, respectively. The R631C substitution was not detected in 22 normal individuals or in 12 of 14 CPTase II-deficient patients with the muscular (myopathic) form of CPT II deficiency (255110). Notably, 2 of the adult CPTase II-deficient patients were heterozygous for the triply mutant ICV allele, suggesting compound heterozygosity for this and a different mutant allele. In vitro functional expression studies showed that the R631C substitution drastically depressed catalytic activity of the CPT II protein. The V368I and M647V mutations, although not affecting enzyme activity alone, exacerbated the effects of the R631C substitution. </p><p>In a Dutch patient with adult-onset (myopathic) CPT II deficiency, Taroni et al. (1993) identified compound heterozygosity for the R631C mutation and the S113L mutation (600650.0002). Another unrelated Italian patient with the myopathic form had the R631C mutation on 1 allele. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED</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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CPT2, SER113LEU
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<br />
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SNP: rs74315294,
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gnomAD: rs74315294,
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ClinVar: RCV000009510, RCV000185836, RCV000194764, RCV000202499, RCV000515252, RCV000576571, RCV000624845, RCV000662284, RCV001004157, RCV001813968, RCV003137507
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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 8 unrelated patients with familial recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency (255110), Taroni et al. (1993) identified a homozygous 439C-T transition in the CPT2 gene, resulting in a ser133-to-leu substitution (S133L). One of the patients had been reported by DiDonato et al. (1978). Among a total of 25 patients with the disorder, Taroni et al. (1993) found the S113L mutation in 56% of the mutant CPT II alleles and concluded that the S113L missense mutation is the most frequent change found in the myopathic form of CPT II deficiency. One Dutch patient was compound heterozygous for the S113L mutation and the R631C (600650.0001) mutation. In vitro functional expression studies showed that the S113L mutation resulted in normal protein synthesis, but a markedly reduced steady-state level, indicating decreased stability of the mutant protein. </p><p>By in vitro functional analysis in fibroblasts, Bonnefont et al. (1996) showed that the S113L mutation resulted in 20% CPT II residual activity with no consequence on long-chain fatty acid (LCFA) oxidation, whereas the Y628S mutation (600650.0005), found in the more severe infantile form of the disorder (600649), resulted in 10% CPT II residual activity and markedly impaired LCFA oxidation. Bonnefont et al. (1996) concluded that CPT II activity must be reduced below a critical threshold for LCFA oxidation in fibroblasts to be impaired. This critical threshold differs among tissues, thus providing a basis for the phenotypic heterogeneity of CPT II deficiency. </p><p>In 3 related patients with CPT II deficiency from consanguineous marriages, 2 sibs and a first cousin, Handig et al. (1996) identified homozygosity for the S113L mutation. The cases could be traced back to a common ancestral couple 5 generations earlier. The family showed clinical variability of the disorder. </p><p>Martin et al. (1999) identified the S113L mutation in 8 of 14 Spanish patients from 10 unrelated families. Seven patients were homozygous for the mutation, 1 patient was heterozygous, and 6 patients did not carry the mutation on either allele. The mutation was found in the heterozygous state in 7 healthy relatives belonging to 3 different families. </p><p>Joshi et al. (2012) reported 2 unrelated patients with stress-induced myopathic carnitine palmitoyltransferase II deficiency who were heterozygous for the S113L mutation. One patient, a 21-year-old female professional tennis player, suffered from exercise-induced attacks of muscle pain, burning sensations, and proximal weakness. The other patient, a 30-year-old male amateur marathon runner, developed muscle cramps and rhabdomyolysis upon extensive exercise and insolation-induced fever. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE, INCLUDED
|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
|
CPT2, PRO50HIS
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<br />
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|
|
SNP: rs28936375,
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|
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gnomAD: rs28936375,
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|
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ClinVar: RCV000009511, RCV000009512, RCV000202440, RCV000440440, RCV000735345, RCV000762941, RCV003473063
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In patients with the myopathic form of CPT II deficiency (255110), Verderio et al. (1995) identified a 665C-A transversion in exon 1 of the CPT2 gene, resulting in a pro50-to-his (P50H) substitution. This amino acid substitution occurred within a leucine-proline motif that is highly conserved in acyltransferases from different species. The mutation was detected in both alleles of a patient of Italian ancestry and in 1 allele of 1 patient each of Italian, Dutch, and French ancestry. </p><p>Vladutiu et al. (2002) reported a male infant of mixed heritage with the late infantile form of CPT II (600649) who was compound heterozygous for the P50H mutation and for a truncating 2-bp deletion (see 600650.0009). He presented at age 11 months with hypoglycemia, vomiting, and lethargy after a febrile illness. Dietary management was successful, and he was normal appearing at age 5 years. CPT II activity in fibroblasts was 17% of normal. Vladutiu et al. (2002) noted that the P50H mutation is usually associated with late-onset disease and postulated that compound heterozygosity for a mild and a severe CPT2 mutation causes an intermediate phenotype. </p>
|
|
</span>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPT2, ASP553ASN
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|
|
|
<br />
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|
|
SNP: rs28936376,
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|
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gnomAD: rs28936376,
|
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|
|
ClinVar: RCV000009513, RCV000675130, RCV004766994
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|
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|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient of Italian ancestry with the myopathic form of CPT II deficiency (255110), Verderio et al. (1995) identified compound heterozygosity for 2 mutations in the CPT2 gene: a 2173G-A transition in exon 5, resulting in an asp553-to-asn (D553N) substitution, and S113L (600650.0002). Immunoblot analysis demonstrated that both mutations were associated with a markedly reduced steady-state level of the protein, indicating decreased stability of the mutant gene product. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPT2, TYR628SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28936673,
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|
|
|
|
|
gnomAD: rs28936673,
|
|
|
|
|
|
ClinVar: RCV000009514, RCV000202449, RCV000415611
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an infant with the infantile form of CPT II deficiency (600649) originally reported by Demaugre et al. (1991), Bonnefont et al. (1996) identified a homozygous 2399A-C transversion in the CPT2 gene, resulting in a tyr628-to-ser (Y628S) substitution. In vitro functional analysis in fibroblasts showed that the Y628S mutation resulted in 10% CPT II residual activity and markedly impaired oxidation of long-chain fatty acids, whereas the S113L (600650.0002) mutation found in the less severe myopathic form of the disorder (255110) resulted in 20% CPT II residual activity, without consequence on LCFA oxidation. Bonnefont et al. (1996) concluded that CPT II activity must be reduced below a critical threshold for LCFA oxidation in fibroblasts to be impaired. This critical threshold differs among tissues, thus providing a basis for the phenotypic heterogeneity of CPT II deficiency. </p><p>Martin et al. (1999) reported a patient with the myopathic form of CPT II deficiency who had the Y628S mutation on 1 allele. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPT2, GLU174LYS
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|
|
|
|
<br />
|
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|
|
SNP: rs28936674,
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|
|
gnomAD: rs28936674,
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|
|
|
ClinVar: RCV000009516, RCV000202437, RCV003473064
|
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|
|
|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Japanese sibs with the infantile form of CPT II deficiency (600649), Yamamoto et al. (1996) identified compound heterozygosity for 2 mutations in the CPT2 gene: a 621G-A transition resulting in a glu174-to-lys (E174K) substitution, and a 1249T-A transversion resulting in a phe383-to-tyr (F383Y; 600650.0007) substitution. </p>
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</span>
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</div>
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED, INCLUDED
|
|
</span>
|
|
</div>
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|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CPT2, PHE383TYR
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|
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<br />
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|
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SNP: rs74315295,
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|
|
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gnomAD: rs74315295,
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|
|
|
|
|
ClinVar: RCV000009517, RCV000009518, RCV000202462, RCV000411002, RCV000762943, RCV001004159, RCV001270097, RCV003473065
|
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the phe383-to-tyr (F838Y) mutation in the CPT2 gene that was found in compound heterozygous state in 2 Japanese patients with infantile CPT II deficiency (600649) by Yamamoto et al. (1996), see 600650.0006. </p><p>Aoki et al. (2007) reported a 21-year-old Japanese woman with the myopathic form of CPT II deficiency (255110) associated with a homozygous F383Y mutation. At age 19 and again at age 21, she had episodes of myalgia, dark urine, and increased serum creatine kinase during viral illnesses. Residual CPT2 activity ranged from 2 to 7% of normal controls, which the authors noted was usually associated with the more severe form of the disorder. Family history revealed a brother and sister who both died as infants. </p>
|
|
</span>
|
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</div>
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<div>
|
|
<br />
|
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</div>
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|
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</div>
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<div>
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
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|
CPT2, ARG503CYS
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|
|
|
<br />
|
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|
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SNP: rs74315296,
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|
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|
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gnomAD: rs74315296,
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ClinVar: RCV000009519, RCV000202513, RCV001004160, RCV002490348, RCV003317032, RCV003450624, RCV003473066
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Vladutiu et al. (1998, 2000) reported a family in which a woman, her father, and her son were heterozygous for an arg503-to-cys (R503C) mutation in a highly conserved region of the CPT2 gene. Sequence analysis showed no other change in CPT2. The 54-year-old mother had a 35-year history of progressive muscle weakness and myopathic symptoms associated with reduced CPT II activity (255110) in lymphoblasts (47% of normal), fibroblasts (43%), and skeletal muscle (13%). Her 26-year-old son had a lifelong history of myopathic symptoms, whereas his grandfather had only mild weakness during childhood. The son had survived an episode of malignant hyperthermia during surgery at 4 years of age, during which CPK went to values greater than 5,000 mU/mL. Analysis of the V368I and M647V polymorphisms (see 600650.0001) in the CPT2 gene showed that the mutant allele was linked to 368I and 647M in this family, and that the normal allele was linked to 647V in the affected patient and her son and to 647M in the patient's father. In common with malignant hyperthermia-associated mutations affecting skeletal muscle in the RYR1 (180901) and CACNL1A3 (114208) genes, the clinical, biochemical, and genetic evidence in this family suggested that the R503C substitution in CPT2 may cause a latent myopathy that becomes apparent only after specific anesthetic exposure. </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>.0009 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL, INCLUDED<br />
|
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE, INCLUDED
|
|
</span>
|
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</div>
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<div>
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<span class="mim-text-font">
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|
CPT2, 2-BP DEL, 1237AG AND PHE448LEU
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<br />
|
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|
|
SNP: rs397509431, rs74315297,
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|
|
gnomAD: rs397509431, rs74315297,
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ClinVar: RCV000009520, RCV000178040, RCV000185837, RCV000202478, RCV000202516, RCV000202553, RCV000430397, RCV000576522, RCV001810398, RCV002225079, RCV002490673, RCV003474675
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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>Taggart et al. (1999) reported 4 Ashkenazi Jewish patients with late-onset CPT II deficiency (255110) who were compound heterozygous for a CPT2 allele with a 2-bp deletion, which they termed 413delAG, and a phe448-to-leu (F448L) substitution, and for the S113L (600650.0002) mutation. The 2-bp deletion causes a premature termination codon at residue 420; thus, the F448L change is not contained within the truncated protein and does not have functional significance. </p><p>Elpeleg et al. (2001) reported 2 Ashkenazi Jewish sibs with the antenatal form of CPT II deficiency (608836) who were homozygous for the allele carrying the 2 mutations in exon 4 of the CPT2 gene; the 1-bp deletion, which they termed 1237delAG, and the F448L mutation. Both sibs had periventricular calcifications and markedly enlarged kidneys found in the fifth gestational month. Activity of CPT II in lymphocytes was undetectable. The 1237delAG mutation was predicted to result in a truncated protein at 65% of its normal length. Referring to the findings of Taggart et al. (1999), Elpeleg et al. (2001) suggested that this allele is common in the Ashkenazi Jewish population. </p><p>Vladutiu et al. (2002) reported a male infant of mixed heritage with the late infantile form of CPT II (600649) and episodic hypoglycemia who was compound heterozygous for the 2-bp deletion and the P50H (600650.0003) mutation. A male infant of Ashkenazi Jewish descent with the lethal neonatal form of CPT II was compound heterozygous for the 2-bp deletion and a 3-bp deletion/5-bp insertion (600650.0014). </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>.0010 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL</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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CPT2, 1-BP INS/25-BP DEL, NT534
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<br />
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SNP: rs515726173,
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gnomAD: rs515726173,
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ClinVar: RCV000202494, RCV000414700, RCV002274921, RCV003398720, RCV003474723
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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 Moroccan family in which 4 sibs died from neonatal CPT II deficiency (608836), Smeets et al. (2003) identified a novel splice site mutation in the CPT2 gene: a G-to-A transition in the splice acceptor site of intron 2 (IVS2-1G-A; 600650.0011). Studies at the mRNA level indicated that the affected children were homozygous for an insertion of a threonine at codon 534 (534insT) followed by a 25-bp deletion (bases 534-558). Studies of genomic DNA, however, revealed all patients were compound heterozygous for this 534insT/del25 mutation, and, on the other allele, for the novel splice site mutation. The findings underscored the incompleteness of mutation detection at the mRNA level in cases where a mutation leads to aberrant splicing or nonsense-mediated messenger decay. </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>.0011 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL</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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CPT2, IVS2AS, G-A, -1
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<br />
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SNP: rs1557713988,
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ClinVar: RCV000009524
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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>For discussion of the splice site mutation (IVS2-1G-A) in the CPT2 gene that was found in compound heterozygous state in sibs with neonatal CPT II deficiency (608836) by Smeets et al. (2003), see 600650.0010. </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>.0012 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL</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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CPT2, 11-BP DUP, NT997
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<br />
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ClinVar: RCV000009525
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sibs with lethal neonatal CPT II deficiency (608836) originally reported by Witt et al. (1991), Gellera et al. (1992) identified a heterozygous 11-bp insertion mutation in exon 4 of the CPT2 gene (nucleotides 997-1007). The insertion results in a premature termination signal predicted to truncated the CPT2 protein by approximately 350 amino acids at the C terminus. The unaffected mother carried the insertion mutation, but the father had only wildtype alleles; Gellera et al. (1992) concluded that an additional, unidentified CPT2 mutation was present in the affected sibs. Cultured fibroblasts from the patients showed a 92% reduction in CPT II activity and virtual absence of the protein, indicating that complete CPT2 deficiency is a lethal condition.</p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0013 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL</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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CPT2, PRO227LEU
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<br />
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SNP: rs74315298,
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gnomAD: rs74315298,
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ClinVar: RCV000009526, RCV000185840, RCV000202466, RCV000576348, RCV002496314, RCV003473067, RCV003934818
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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 premature Haitian infant with neonatal lethal CPT II deficiency (608836), Taroni et al. (1994) identified a homozygous mutation in exon 4 of the CPT2 gene, resulting in a pro227-to-leu (P227L) substitution. No CPT2 protein was detected by Western blot analysis of fibroblasts, and in vitro analysis demonstrated normal amounts of newly synthesized CPT II, suggesting decreased enzyme stability. CPT II residual activity was measured at less than 15% of normal control values. The parents were heterozygous for the mutation.</p><p>Isackson et al. (2008) identified a homozygous P227L mutation in an African American patient with lethal neonatal CPT II deficiency. The infant appeared normal at birth but developed hypoglycemia in the nursery. She also had heart block, polycystic kidneys, and seizures, and died at age 14 days. Laboratory studies showed significantly increased plasma carnitine species. Isackson et al. (2008) noted that the P227L substitution is located at the C-terminal end of the beta-2 strand. The authors postulated that the mutation affects enzyme stability, since the affected residue is not near the active site. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0014 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL</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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CPT2, 3-BP DEL/5-BP INS, NT109
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<br />
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SNP: rs754363068,
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gnomAD: rs754363068,
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|
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ClinVar: RCV000409793, RCV000410888, RCV000411956, RCV001042031, RCV001570857, RCV003475976, RCV004975496, RCV005018705
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a male infant of Ashkenazi Jewish descent with the lethal neonatal form of CPT II (608836) first reported by Albers et al. (2001), Vladutiu et al. (2002) identified compound heterozygosity for a 2-bp deletion (see 600650.0009) and a 109AGC-GCAGC change (3-bp deletion and 5-bp insertion) in the CPT2 gene. The infant died on the third day of life; CPT II activity was 6% and 18% of normal in fibroblasts and skeletal muscle, 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">
|
|
<strong>.0015 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CPT2, GLU454TER
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<br />
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SNP: rs74315299,
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|
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ClinVar: RCV000009528, RCV001851765
|
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|
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</span>
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|
</div>
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<div>
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|
<span class="mim-text-font">
|
|
<p>Orngreen et al. (2005) identified a heterozygous glu454-to-ter (E454X) mutation in the CPT2 gene in a man who had experienced an episode of rhabdomyolysis after ingestion of alcohol and no food the night before a swimming practice. Residual CPT2 enzyme activity was 46% of normal control values, and biochemical studies indicated impaired fatty acid oxidation with prolonged exercise, which is consistent with stress-induced myopathic CPT II deficiency (255110). Orngreen et al. (2005) suggested that the E454X truncated CPT2 protein may be incorporated into the tetrameric structure of the enzyme complex, resulting in a dominant-negative effect, and that some heterozygous carriers of CPT2 mutations may be symptomatic. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED</strong>
|
|
</span>
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
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|
|
CPT2, ASP213GLY
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<br />
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|
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SNP: rs74315300,
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|
|
ClinVar: RCV000009529, RCV003581557
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>Orngreen et al. (2005) identified a heterozygous asp213-to-gly (D213G) mutation in the CPT2 gene in a woman with exercise intolerance and muscle cramps. Residual CPT2 enzyme activity was 65% of normal control values, and biochemical studies indicated impaired fatty acid oxidation with prolonged exercise, which is consistent with stress-induced myopathic CPT II deficiency (255110). The D213G substitution occurs in a highly conserved domain of the protein, and the authors suggested that the change may compromise normal enzyme function. The woman had 2 children with myopathic CPT II deficiency caused by compound heterozygous mutations in the CPT2 gene: D213G and S113L (600650.0002). The asymptomatic father was heterozygous for the S113L mutation. Orngreen et al. (2005) suggested that some heterozygous carriers of CPT2 mutations may be symptomatic. </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>.0017 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
|
|
CPT2, TYR120CYS
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<br />
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|
|
SNP: rs121918528,
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|
|
|
|
|
gnomAD: rs121918528,
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|
|
|
|
|
ClinVar: RCV000009530, RCV000202546, RCV000408956, RCV000409888, RCV000762942, RCV001781212, RCV003473068
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with infantile CPT II deficiency (600649), Isackson et al. (2008) identified a homozygous 359A-G transition in the CPT2 gene, resulting in a tyr120-to-cys (Y120C) substitution. The location of the mutation was predicted to interfere with the active site. CPT2 activity was 2.5% of control values. The patient presented at age 15 months following a febrile episode with hypoglycemic encephalopathy and hepatomegaly. There was complete neurologic recovery, and the patient did well with proper treatment. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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|
|
CPT2, PHE352CYS AND VAL368ILE
|
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<br />
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|
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SNP: rs1799821, rs2229291,
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|
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gnomAD: rs1799821, rs2229291,
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ClinVar: RCV000023026, RCV000078115, RCV000078116, RCV000202443, RCV000202483, RCV000444353, RCV000578014, RCV000711317, RCV001533571, RCV001533572, RCV003452999, RCV003453000, RCV003453001, RCV003456002, RCV003974955, RCV003982874
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>Chen et al. (2005) found an association between 2 thermolabile polymorphisms in the CPT2 gene and susceptibility to infection-induced acute encephalopathy-4 (IIAE4; 614212) in Japanese children. The variants were a 1055T-G transversion, resulting in a phe352-to-cys (F352C) substitution (rs2229291), and a 1102G-A transition, resulting in a val368-to-ile (V368I) substitution (rs1799821). Four (30.8%) of 13 patients with the disorder carried these alleles, compared to 6 (7.6%) of 79 controls (p less than 0.025). In vitro functional studies in COS-7 cells showed that the 352C/368I allele had significantly reduced activity (34.7% compared to wildtype) at 37 degrees C, and was decreased even more at 41 degrees C (less than 30% of wildtype at 37 degrees). The 352C/368V allele showed less severely decreased activity (62.8% of wildtype) at 37 degrees C, with again a further decrease at 41 degrees C. Chen et al. (2005) noted that the allelic frequency of F352C in Japan is 0.21, and that this variant has not been reported in Caucasians. The allelic frequency of V368I is 0.70 in Japan and 0.51 in southern European populations. Viral-associated encephalopathy is characterized by a high-grade fever accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, and high morbidity and mortality. Chen et al. (2005) concluded that their findings suggest that a continuous high-grade fever, often accompanied by fasting, causes a systemic and metabolic energy crisis in patients with thermolabile polymorphic variations in the CPT2 gene. </p><p>In vitro studies by Yao et al. (2008) demonstrated that the F352C/V368I variant proteins exerted a dominant-negative effect on the CPT2 homotetramer and had shortened half-lives compared to wildtype, consistent with intracellular instability. The studies also confirmed thermolability, with attenuated CPT2 activity associated with decreased ATP levels at higher temperatures. Yao et al. (2008) hypothesized that ATP depletion may cause increased blood-brain barrier permeability and contribute to cerebral edema in affected individuals. </p><p>Among 29 Japanese patients with infection-induced acute encephalopathy, Shinohara et al. (2011) found significantly higher frequency of the 352C variant in exon 4 of the CPT2 gene compared to controls (27.6 vs 13.5%, odds ratio of 2.44, p = 0.011). All patients with 352C had the 368I allele and the 647M allele (CIM haplotype). There was no difference in allele frequency between patients with a clinical diagnosis of acute necrotizing encephalopathy and those with acute encephalopathy with biphasic seizures and late reduced diffusion, and there was no correlation between good and poor prognosis. </p><p>Mak et al. (2011) reported 2 unrelated Chinese boys from Hong Kong with fatal virally-induced acute encephalopathy. Both were heterozygous for F352C and homozygous for V368I. The infectious agents were Coxsackie virus group A in 1 patient and influenza A, subtype H1 in the other. Both patients had high fever, seizures, and rapid deterioration with cerebral edema and multiorgan failure. Plasma acylcarnitines were increased in all mutation carriers, including asymptomatic parents. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Albers, S., Marsden, D., Quackenbush, E., Stark, A. R., Levy, H. L., Irons, M.
|
|
<strong>Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry.</strong>
|
|
Pediatrics 107: E103, 2001. Note: Electronic Article.
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|
|
[PubMed: 11389301]
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[Full Text: https://doi.org/10.1542/peds.107.6.e103]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Aoki, J., Yasuno, T., Sugie, H., Kido, H., Nishino, I., Shigematsu, Y., Kanazawa, M., Takayanagi, M., Kumami, M., Endo, K., Kaneoka, H., Yamaguchi, M., Fukuda, T., Yamamoto, T.
|
|
<strong>A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation.</strong>
|
|
Neurology 69: 804-805, 2007.
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|
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[PubMed: 17709715]
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[Full Text: https://doi.org/10.1212/01.wnl.0000267665.44477.85]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bieber, L. L.
|
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<strong>Carnitine.</strong>
|
|
Annu. Rev. Biochem. 57: 261-283, 1988.
|
|
|
|
|
|
[PubMed: 3052273]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1146/annurev.bi.57.070188.001401]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bonnefont, J.-P., Taroni, F., Cavadini, P., Cepanec, C., Brivet, M., Saudubray, J.-M., Leroux, J.-P., Demaugre, F.
|
|
<strong>Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.</strong>
|
|
Am. J. Hum. Genet. 58: 971-978, 1996.
|
|
|
|
|
|
[PubMed: 8651281]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Britton, C. H., Schultz, R. A., Zhang, B., Esser, V., Foster, D. W., McGarry, J. D.
|
|
<strong>Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.</strong>
|
|
Proc. Nat. Acad. Sci. 92: 1984-1988, 1995.
|
|
|
|
|
|
[PubMed: 7892212]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.92.6.1984]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, Y., Mizuguchi, H., Yao, D., Ide, M., Kuroda, Y., Shigematsu, Y., Yamaguchi, S., Yamaguchi, M., Kinoshita, M., Kido, H.
|
|
<strong>Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.</strong>
|
|
FEBS Lett. 579: 2040-2044, 2005.
|
|
|
|
|
|
[PubMed: 15811315]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.febslet.2005.02.050]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Demaugre, F., Bonnefont, J.-P., Colonna, M., Cepanec, C., Leroux, J.-P., Saudubray, J.-M.
|
|
<strong>Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death: physiopathological approach to carnitine palmitoyltransferase II deficiencies.</strong>
|
|
J. Clin. Invest. 87: 859-864, 1991.
|
|
|
|
|
|
[PubMed: 1999498]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI115090]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
DiDonato, S., Cornelio, F., Pacini, L., Peluchetti, D., Rimoldi, M., Spreafico, S.
|
|
<strong>Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts.</strong>
|
|
Ann. Neurol. 4: 465-467, 1978.
|
|
|
|
|
|
[PubMed: 736528]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410040513]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Elpeleg, O. N., Hammerman, C., Saada, A., Shaag, A., Golzand, E., Hochner-Celnikier, D., Berger, I., Nadjari, M.
|
|
<strong>Antenatal presentation of carnitine palmitoyltransferase II deficiency.</strong>
|
|
Am. J. Med. Genet. 102: 183-187, 2001.
|
|
|
|
|
|
[PubMed: 11477613]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1457]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Finocchiaro, G., Taroni, F., Rocchi, M., Liras Martin, A., Colombo, I., Tarelli, G. T., DiDonato, S.
|
|
<strong>cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.</strong>
|
|
Proc. Nat. Acad. Sci. 88: 661-665, 1991. Note: Erratum: Proc. Nat. Acad. Sci. 88: 10981 only, 1991.
|
|
|
|
|
|
[PubMed: 1988962]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.88.2.661]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gellera, C., Verderio, E., Floridia, G., Finocchiaro, G., Montermini, L., Cavadini, P., Zuffardi, O., Taroni, F.
|
|
<strong>Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32.</strong>
|
|
Genomics 24: 195-197, 1994.
|
|
|
|
|
|
[PubMed: 7896283]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1994.1605]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gellera, C., Witt, D. R., Verderio, E., Cavadini, P., DiDonato, S., Taroni, F.
|
|
<strong>Molecular study of lethal neonatal carnitine palmitoyltransferase II (CPT II) deficiency. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 51 (suppl.): A168 only, 1992.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Handig, I., Dams, E., Taroni, F., Van Laere, S., de Barsy, T., Willems, P. J.
|
|
<strong>Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency.</strong>
|
|
Hum. Genet. 97: 291-293, 1996.
|
|
|
|
|
|
[PubMed: 8786066]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF02185756]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Isackson, P. J., Bennett, M. J., Lichter-Konecki, U., Willis, M., Nyhan, W. L., Sutton, V. R., Tein, I., Vladutiu, G. D.
|
|
<strong>CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.</strong>
|
|
Molec. Genet. Metab. 94: 422-427, 2008.
|
|
|
|
|
|
[PubMed: 18550408]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2008.05.002]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Joshi, P. R., Deschauer, M., Zierz, S.
|
|
<strong>Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.</strong>
|
|
Wien. Klin. Wochenschr. 124: 851-854, 2012.
|
|
|
|
|
|
[PubMed: 23184072]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00508-012-0296-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mak, C. M., Lam, C., Fong, N., Siu, W., Lee, H. H., Siu, T., Lai, C., Law, C., Tong, S., Poon, W., Lam, D. S., Ng, H, Yuen, Y., Tam, S., Que, T., Kwong, N., Chan, A. Y.
|
|
<strong>Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.</strong>
|
|
J. Hum. Genet. 56: 617-621, 2011.
|
|
|
|
|
|
[PubMed: 21697855]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/jhg.2011.63]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Martin, M. A., Rubio, J. C., De Bustos, F., Del Hoyo, P., Campos, Y., Garcia, A., Bornstein, B., Cabello, A., Arenas, J.
|
|
<strong>Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency.</strong>
|
|
Muscle Nerve 22: 941-943, 1999.
|
|
|
|
|
|
[PubMed: 10398215]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(sici)1097-4598(199907)22:7<941::aid-mus20>3.0.co;2-z]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Minoletti, F., Colombo, I., Liras Martin, A., DiDonato, S., Taroni, F., Finocchiaro, G., Pandolfo, M.
|
|
<strong>Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization.</strong>
|
|
Genomics 13: 1372-1374, 1992. Note: Retraction: Genomics 24: 198 only, 1994.
|
|
|
|
|
|
[PubMed: 1339389]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(92)90076-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Montermini, L., Wang, H., Verderio, E., Taroni, F., DiDonato, S., Finocchiaro, G.
|
|
<strong>Identification of 5-prime regulatory regions of the human carnitine palmitoyltransferase II gene.</strong>
|
|
Biochim. Biophys. Acta 1219: 237-240, 1994.
|
|
|
|
|
|
[PubMed: 8086471]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0167-4781(94)90280-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Orngreen, M. C., Duno, M., Ejstrup, R., Christensen, E., Schwartz, M., Sacchetti, M., Vissing, J.
|
|
<strong>Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.</strong>
|
|
Ann. Neurol. 57: 60-66, 2005.
|
|
|
|
|
|
[PubMed: 15622536]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.20320]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shinohara, M., Saitoh, M., Takanashi, J., Yamanouchi, H., Kubota, M., Goto, T., Kikuchi, M., Shiihara, T., Yamanaka, G., Mizuguchi, M.
|
|
<strong>Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases.</strong>
|
|
Brain Dev. 33: 512-517, 2011.
|
|
|
|
|
|
[PubMed: 20934285]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.braindev.2010.09.002]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Slama, A., Brivet, M., Boutron, A., Legrand, A., Saudubray, J.-M., Demaugre, F.
|
|
<strong>Complementation analysis of carnitine palmitoyltransferase I and II defects.</strong>
|
|
Pediat. Res. 40: 542-546, 1996.
|
|
|
|
|
|
[PubMed: 8888280]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1203/00006450-199610000-00005]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smeets, R. J. P., Smeitink, J. A. M., Semmekrot, B. A., Scholte, H. R., Wanders, R. J. A., van den Heuvel, L. P. W. J.
|
|
<strong>A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.</strong>
|
|
J. Hum. Genet. 48: 8-13, 2003.
|
|
|
|
|
|
[PubMed: 12560872]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s100380300001]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Taggart, R. T., Smail, D., Apolito, C., Vladutiu, G. D.
|
|
<strong>Novel mutations associated with carnitine palmitoyltransferase II deficiency.</strong>
|
|
Hum. Mutat. 13: 210-220, 1999.
|
|
|
|
|
|
[PubMed: 10090476]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Taroni, F., Gellera, C., Cavadini, P., Baratta, S., Lamantea, E., Dethlefs, S., DiDonato, S., Reik, R. A., Benke, P. J.
|
|
<strong>Lethal carnitine palmitoyltransferase (CPT) II deficiency in newborns: a molecular-genetic study. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 55 (suppl.): A245 only, 1994.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Taroni, F., Verderio, E., Dworzak, F., Willems, P. J., Cavadini, P., DiDonato, S.
|
|
<strong>Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.</strong>
|
|
Nature Genet. 4: 314-320, 1993.
|
|
|
|
|
|
[PubMed: 8358442]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0793-314]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Taroni, F., Verderio, E., Fiorucci, S., Cavadini, P., Finocchiaro, G., Uziel, G., Lamantea, E., Gellera, C., DiDonato, S.
|
|
<strong>Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 8429-8433, 1992.
|
|
|
|
|
|
[PubMed: 1528846]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.89.18.8429]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Thuillier, L., Rostane, H., Droin, V., Demaugre, F., Brivet, M., Kadhom, N., Prip-Buus, C., Gobin, S., Saudubray, J.-M., Bonnefont, J.-P.
|
|
<strong>Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.</strong>
|
|
Hum. Mutat. 21: 493-501, 2003.
|
|
|
|
|
|
[PubMed: 12673791]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.10201]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Verderio, E., Cavadini, P., Montermini, L., Wang, H., Lamantea, E., Finocchiaro, G., DiDonato, S., Gellera, C., Taroni, F.
|
|
<strong>Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.</strong>
|
|
Hum. Molec. Genet. 4: 19-29, 1995.
|
|
|
|
|
|
[PubMed: 7711730]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/4.1.19]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vladutiu, G. D., Bennett, M. J., Smail, D., Wong, L.-J., Taggart, R. T., Lindsley, H. B.
|
|
<strong>A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene.</strong>
|
|
Molec. Genet. Metab. 70: 134-141, 2000.
|
|
|
|
|
|
[PubMed: 10873395]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/mgme.2000.3009]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vladutiu, G. D., Quackenbush, E. J., Hainline, B. E., Albers, S., Smail, D. S., Bennett, M. J.
|
|
<strong>Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.</strong>
|
|
J. Pediat. 141: 734-736, 2002.
|
|
|
|
|
|
[PubMed: 12410208]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1067/mpd.2002.128545]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vladutiu, G. D., Taggart, R. T., Smail, D., Lindsley, H. B., Hogan, K.
|
|
<strong>A carnitine palmitoyl transferase II (CPT2) arg503cys mutation confers malignant hyperthermia and variable myopathy. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 63 (suppl.): A5 only, 1998.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Witt, S. R., Theobald, M., Santa-Maria, M., Packman, S., Townsend, S., Sweetman, L., Goodman, S., Rhead, W., Hoppel, C.
|
|
<strong>Carnitine palmitoyl transferase-type 2 deficiency: two new cases and successful prenatal diagnosis. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 49 (suppl.): A109 only, 1991.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yamamoto, S., Abe, H., Kohgo, T., Ogawa, A., Ohtake, A., Hayashibe, H., Sakuraba, H., Suzuki, Y., Aramaki, S., Takayanagi, M., Hasegawa, S., Niimi, H.
|
|
<strong>Two novel gene mutations (glu174-to-lys, phe383-to-tyr) causing the 'hepatic' form of carnitine palmitoyltransferase II deficiency.</strong>
|
|
Hum. Genet. 98: 116-118, 1996.
|
|
|
|
|
|
[PubMed: 8682496]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390050170]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yao, D., Mizuguchi, H., Yamaguchi, M., Yamada, H., Chida, J., Shikata, K., Kido, H.
|
|
<strong>Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.</strong>
|
|
Hum. Mutat. 29: 718-727, 2008.
|
|
|
|
|
|
[PubMed: 18306170]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.20717]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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Carol A. Bocchini - updated : 02/06/2017<br>Cassandra L. Kniffin - updated : 9/19/2011<br>Cassandra L. Kniffin - updated : 4/9/2009<br>Cassandra L. Kniffin - updated : 12/3/2007<br>Cassandra L. Kniffin - updated : 5/10/2005<br>Cassandra L. Kniffin - reorganized : 8/23/2004<br>Cassandra L. Kniffin - updated : 8/19/2004<br>Natalie E. Krasikov - updated : 8/10/2004<br>Victor A. McKusick - updated : 6/11/2003<br>Victor A. McKusick - updated : 2/11/2003<br>John A. Phillips, III - updated : 10/8/2002<br>Sonja A. Rasmussen - updated : 8/24/2001<br>Victor A. McKusick - updated : 2/15/2001<br>Victor A. McKusick - updated : 9/24/1999<br>Victor A. McKusick - updated : 10/26/1998<br>Victor A. McKusick - updated : 3/27/1998
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Victor A. McKusick : 7/26/1995
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carol : 03/15/2018<br>alopez : 02/09/2018<br>carol : 02/07/2017<br>carol : 02/06/2017<br>carol : 12/29/2016<br>carol : 12/29/2016<br>joanna : 12/20/2016<br>carol : 04/22/2013<br>alopez : 3/20/2013<br>terry : 12/21/2012<br>mgross : 10/5/2012<br>terry : 10/10/2011<br>carol : 10/3/2011<br>ckniffin : 9/19/2011<br>terry : 4/7/2011<br>carol : 1/19/2011<br>wwang : 4/20/2009<br>ckniffin : 4/9/2009<br>wwang : 12/7/2007<br>ckniffin : 12/3/2007<br>wwang : 5/13/2005<br>ckniffin : 5/10/2005<br>carol : 8/25/2004<br>carol : 8/23/2004<br>ckniffin : 8/19/2004<br>terry : 8/10/2004<br>tkritzer : 6/24/2003<br>terry : 6/11/2003<br>carol : 2/20/2003<br>carol : 2/20/2003<br>tkritzer : 2/12/2003<br>terry : 2/11/2003<br>alopez : 10/8/2002<br>carol : 8/31/2001<br>mcapotos : 8/24/2001<br>cwells : 2/21/2001<br>terry : 2/15/2001<br>alopez : 10/25/1999<br>terry : 9/24/1999<br>carol : 5/18/1999<br>alopez : 10/26/1998<br>carol : 10/26/1998<br>psherman : 3/27/1998<br>dholmes : 3/6/1998<br>mark : 6/19/1996<br>terry : 6/11/1996<br>terry : 5/3/1996<br>terry : 4/30/1996<br>terry : 3/4/1996<br>terry : 3/4/1996<br>mark : 3/4/1996<br>mark : 3/4/1996<br>mark : 3/4/1996<br>mark : 3/4/1996<br>mark : 3/4/1996<br>terry : 2/20/1996<br>mimadm : 11/3/1995<br>mark : 7/26/1995
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