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Entry
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- *300095 - SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 2; SLC16A2
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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">*300095</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<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="#cloning">Cloning and Expression</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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<a href="#mapping">Mapping</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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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300095">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 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=ENSG00000147100;t=ENST00000587091" 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=6567" 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=300095" 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=ENSG00000147100;t=ENST00000587091" 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_006517" 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_006517" 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=300095" 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=02106&isoform_id=02106_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/SLC16A2" 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/458247,458255,31076331,114152841,119619050,119619051,383087728" 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/P36021" 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=6567" 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=ENSG00000147100;t=ENST00000587091" 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=SLC16A2" 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=SLC16A2" 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+6567" 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/SLC16A2" 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:6567" 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/6567" 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=chrX&hgg_gene=ENST00000587091.6&hgg_start=74421493&hgg_end=74533916&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10923" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:10923" 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/slc16a2" 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=300095[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=300095[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/SLC16A2/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/ENSG00000147100" 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=SLC16A2" 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=SLC16A2" 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=SLC16A2" 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="http://www.LOVD.nl/SLC16A2" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SLC16A2&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/PA35814" 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:10923" 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/FBgn0001296.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:1203732" 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/SLC16A2#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:1203732" 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/6567/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=6567" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-120117-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6567" 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=SLC16A2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 702327009<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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300095
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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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SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 2; SLC16A2
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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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MONOCARBOXYLATE TRANSPORTER 8; MCT8<br />
|
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X-LINKED PEST-CONTAINING TRANSPORTER; XPCT<br />
|
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DXS128E
|
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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=SLC16A2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC16A2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/X/434?start=-3&limit=10&highlight=434">Xq13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:74421493-74533916&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'})">X:74,421,493-74,533,916</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/434?start=-3&limit=10&highlight=434">
|
|
Xq13.2
|
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</a>
|
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</span>
|
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</td>
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Allan-Herndon-Dudley syndrome
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/300523"> 300523 </a>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300095" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300095" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>In the course of physical characterization of the region in Xq13.2 known to contain the X-inactivation center (XIC; <a href="/entry/314670">314670</a>), <a href="#11" class="mim-tip-reference" title="Lafreniere, R. G., Carrel, L., Willard, H. F. <strong>A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.</strong> Hum. Molec. Genet. 3: 1133-1139, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7981683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7981683</a>] [<a href="https://doi.org/10.1093/hmg/3.7.1133" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7981683">Lafreniere et al. (1994)</a> isolated the SLC16A2 gene, previously identified as DXS128E, by positional cloning. The gene encodes a predicted 539-amino acid protein with a molecular mass of 67 kD. The protein contains 12 hydrophobic transmembrane domains, characteristic of a family of transporter proteins. The presence of an N-terminal PEST domain, consisting mainly of proline/glutamic acid repeats, suggested that the protein may be rapidly or conditionally degraded. <a href="#11" class="mim-tip-reference" title="Lafreniere, R. G., Carrel, L., Willard, H. F. <strong>A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.</strong> Hum. Molec. Genet. 3: 1133-1139, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7981683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7981683</a>] [<a href="https://doi.org/10.1093/hmg/3.7.1133" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7981683">Lafreniere et al. (1994)</a> designated the gene XPCT for X-linked PEST-containing transporter. Expression studies indicated that XPCT is subject to X-chromosome inactivation, being expressed only from the active X, despite mapping within 600 kb of the XIST gene, which is expressed exclusively from the inactive X. (The XIC is defined in humans and mice as the minimal region of overlap retained in a series of X-chromosome translocations and deletions that could undergo inactivation. In humans, the XIC region is limited to a 680-1200 kb interval in Xq13.2.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7981683" 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="#3" class="mim-tip-reference" title="Debrand, E., Heard, E., Avner, P. <strong>Cloning and localization of the murine Xpct gene: evidence for complex rearrangements during the evolution of the region around the Xist gene.</strong> Genomics 48: 296-303, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545634</a>] [<a href="https://doi.org/10.1006/geno.1997.5173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9545634">Debrand et al. (1998)</a> demonstrated that the mouse homolog of MCT8 shows 85% nucleotide identity with the human gene, with conservation of the overall protein structure. Northern blot analysis of mouse tissues revealed highest expression of a 4.4-kb Xpct transcript in liver and kidney, with lower expression in heart, brain, and lung. Little to no expression was detected in spleen, testis, and skeletal muscle. <a href="#3" class="mim-tip-reference" title="Debrand, E., Heard, E., Avner, P. <strong>Cloning and localization of the murine Xpct gene: evidence for complex rearrangements during the evolution of the region around the Xist gene.</strong> Genomics 48: 296-303, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545634</a>] [<a href="https://doi.org/10.1006/geno.1997.5173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9545634">Debrand et al. (1998)</a> noted that humans show a slightly different expression pattern, with low XPCT expression in kidney and an additional 7-kb transcript in skeletal muscle. In mouse embryos, Xpct expression was detected at 7 days postcoitum, and expression increased during development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9545634" 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="Frints, S. G. M., Lenzner, S., Bauters, M., Jensen, L. R., Van Esch, H., des Portes, V., Moog, U., Macville, M. V. E., van Roozendaal, K., Schrander-Stumpel, C. T. R. M., Tzschach, A., Marynen, P., and 12 others. <strong>MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.</strong> Europ. J. Hum. Genet. 16: 1029-1037, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18398436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18398436</a>] [<a href="https://doi.org/10.1038/ejhg.2008.66" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18398436">Frints et al. (2008)</a> presented evidence suggesting that the met75 residue is the relevant start codon for SLC16A2 translation. An A-to-T transversion affecting the met1 residue was found in a healthy individual, indicating that a change at that codon did not affect protein translation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18398436" 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 immunohistochemical analysis of human fetal brain, <a href="#18" class="mim-tip-reference" title="Wirth, E. K., Roth, S., Blechschmidt, C., Holter, S. M., Becker, L., Racz, I., Zimmer, A., Klopstock, T., Gailus-Durner, V., Fuchs, H., Wurst, W., Naumann, T., Brauer, A., Hrabe de Angelis, M., Kohrle, J., Gruters, A., Schweizer, U. <strong>Neuronal 3-prime,3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.</strong> J. Neurosci. 29: 9439-9449, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19641107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19641107</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.6055-08.2009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19641107">Wirth et al. (2009)</a> detected earliest MCT8 expression in blood vessels at gestational week 25 (GW25), and this expression continued until GW40. MCT8 immunoreactivity was also found in developing neurons. The mature neuronal expression pattern was established in the hippocampus and cortex from GW32, with prominent expression in these areas by GW40. MCT8 also located on the apical side of the choroid plexus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19641107" 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="#6" class="mim-tip-reference" title="Friesema, E. C. H., Ganguly, S., Abdalla, A., Manning Fox, J. E., Halestrap, A. P., Visser, T. J. <strong>Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.</strong> J. Biol. Chem. 278: 40128-40135, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12871948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12871948</a>] [<a href="https://doi.org/10.1074/jbc.M300909200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12871948">Friesema et al. (2003)</a> demonstrated thyroid hormone transport function in the rat homolog of MCT8 by in vitro expression in Xenopus oocytes. A 10-fold increase in the uptake of a variety of iodothyronines was observed. The 4 amino acids tyrosine, tryptophan, phenylalanine, and leucine did not compete with the transport of iodothyronines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12871948" 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>OATP14 (SLCO1C1; <a href="/entry/613389">613389</a>) transports T4, T3, and the inactive metabolite rT3. <a href="#14" class="mim-tip-reference" title="Roberts, L. M., Woodford, K., Zhou, M., Black, D. S., Haggerty, J. E., Tate, E. H., Grindstaff, K. K., Mengesha, W., Raman, C., Zerangue, N. <strong>Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier.</strong> Endocrinology 149: 6251-6261, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18687783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18687783</a>] [<a href="https://doi.org/10.1210/en.2008-0378" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18687783">Roberts et al. (2008)</a> compared MCT8 and OATP14 mRNA and protein expression in human, mouse, and rat brain. In addition to neurons, MCT8 was expressed in cerebral microvessels in all species. In contrast, OATP14 mRNA and protein were enriched in rodent cerebral microvessels, but not in human microvessels. Immunohistochemical analysis of rodent and human choroid plexus epithelial cells revealed that MCT8 localized primarily to the epithelial cell apical surface, whereas OATP14 localized to both the apical and basolateral surfaces, with higher accumulation on basolateral surfaces. Tanycytes lining the third ventricle of mouse brain showed enriched Mct8 and Oatp14 expression. <a href="#14" class="mim-tip-reference" title="Roberts, L. M., Woodford, K., Zhou, M., Black, D. S., Haggerty, J. E., Tate, E. H., Grindstaff, K. K., Mengesha, W., Raman, C., Zerangue, N. <strong>Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier.</strong> Endocrinology 149: 6251-6261, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18687783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18687783</a>] [<a href="https://doi.org/10.1210/en.2008-0378" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18687783">Roberts et al. (2008)</a> suggested that MCT8 and OATP14 may function as a pair to transport T4 from the blood into the cerebrospinal fluid and to efflux thyroid hormones or their inactive metabolites from the cerebral spinal fluid to blood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18687783" 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>Thyroid hormone (TH) transporters control TH homeostasis in brain, as evidenced by the complex endocrine and neurologic phenotype of patients with Allan-Herndon-Dudley syndrome, caused by mutations in MCT8 (see MOLECULAR GENETICS). <a href="#17" class="mim-tip-reference" title="Visser, W. E., Swagemakers, S. M. A., Ozgur, Z., Schot, R., Verheijen, F. W., van Ijcken, W. F. J., van der Spek, P. J., Visser, T. J. <strong>Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.</strong> Hum. Molec. Genet. 19: 4189-4200, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20705735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20705735</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20705735[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddq337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20705735">Visser et al. (2010)</a> analyzed gene expression profiles in fibroblasts from patients with MCT8 mutations. Studying MCT8 and its transcriptional context in different comprehensive spatial and temporal human brain transcriptome data sets revealed distinct region-specific MCT8 expression. Furthermore, MCT8 demonstrated a clear age-dependent decrease, suggesting its importance in early brain development. Genes differentially expressed in patient fibroblasts were linked, by comparative transcriptome analysis, to the human brain transcriptome. Differentially expressed genes in patient fibroblasts were strongly overrepresented among genes highly correlated with MCT8 expression in brain. In addition, genes were identified in the classical TH signaling pathway that were affected in patients. Expression of the thyroid hormone receptor-2 (THRA2; see <a href="/entry/190120">190120</a>) variant closely followed expression of MCT8 in brain, much more so than other thyroid receptor isoforms. <a href="#17" class="mim-tip-reference" title="Visser, W. E., Swagemakers, S. M. A., Ozgur, Z., Schot, R., Verheijen, F. W., van Ijcken, W. F. J., van der Spek, P. J., Visser, T. J. <strong>Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.</strong> Hum. Molec. Genet. 19: 4189-4200, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20705735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20705735</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20705735[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddq337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20705735">Visser et al. (2010)</a> concluded that there is a functional relationship between MCT8 and THRA2, and suggested a role for THRA2 in the (patho)physiology of TH signaling in the brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20705735" 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="#11" class="mim-tip-reference" title="Lafreniere, R. G., Carrel, L., Willard, H. F. <strong>A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.</strong> Hum. Molec. Genet. 3: 1133-1139, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7981683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7981683</a>] [<a href="https://doi.org/10.1093/hmg/3.7.1133" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7981683">Lafreniere et al. (1994)</a> mapped the SLC16A2 gene to chromosome Xq13.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7981683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 2 unrelated families in which males had severe mental retardation associated with increased serum T3 (Allan-Herndon-Dudley syndrome, AHDS; <a href="/entry/300523">300523</a>), <a href="#4" class="mim-tip-reference" title="Dumitrescu, A. M., Liao, X.-H., Best, T. B., Brockmann, K., Refetoff, S. <strong>A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.</strong> Am. J. Hum. Genet. 74: 168-175, 2004. Note: Erratum: Am. J. Hum. Genet. 74: 598 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14661163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14661163</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14661163[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/380999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14661163">Dumitrescu et al. (2004)</a> identified 2 different mutations in the MCT8 gene (<a href="#0001">300095.0001</a>; <a href="#0002">300095.0002</a>). Heterozygous females had a milder thyroid phenotype and no neurologic defects. Despite mild perturbation of thyroid hormone levels, the lack of other stigmata of generalized thyroid hormone deprivation, and the lack of neurologic improvement even after the normalization of serum TSH during treatment with thyroid hormone, the severe phenotype suggested possible preferential function in brain tissue. However, <a href="#4" class="mim-tip-reference" title="Dumitrescu, A. M., Liao, X.-H., Best, T. B., Brockmann, K., Refetoff, S. <strong>A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.</strong> Am. J. Hum. Genet. 74: 168-175, 2004. Note: Erratum: Am. J. Hum. Genet. 74: 598 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14661163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14661163</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14661163[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/380999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14661163">Dumitrescu et al. (2004)</a> found similar expression of MCT8 mRNA in different human tissues. The discrepancy between the thyroid and neurologic findings raised the possibility that the action of MCT8 in the brain may be unrelated to thyroid hormone transport. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14661163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated boys with mental retardation and increased serum T3, <a href="#8" class="mim-tip-reference" title="Friesema, E., Grueters, A., Halestrap, A., Reeser, M., Visser, T. <strong>Mutations in a thyroid hormone transporter in patients with severe psychomotor retardation and high serum T3 levels. (Abstract)</strong> Thyroid 13: 672 only, 2003."None>Friesema et al. (2003)</a> identified 2 different mutations in the MCT8 gene (<a href="#0003">300095.0003</a>; <a href="#0004">300095.0004</a>).</p><p>In 5 unrelated patients with neurologic abnormalities and increased serum T3, <a href="#7" class="mim-tip-reference" title="Friesema, E. C. H., Grueters, A., Biebermann, H., Krude, H., von Moers, A., Reeser, M., Barrett, T. G., Mancilla, E. E., Svensson, J., Kester, M. H. A., Kuiper, G. G. J. M., Balkassmi, S., Uitterlinden, A. G., Koehrle, J., Rodien, P., Halestrap, A. P., Visser, T. J. <strong>Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.</strong> Lancet 364: 1435-1437, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15488219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15488219</a>] [<a href="https://doi.org/10.1016/S0140-6736(04)17226-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15488219">Friesema et al. (2004)</a> identified 5 different mutations in the MCT8 gene (see, e.g., <a href="#0005">300095.0005</a>-<a href="#0006">300095.0006</a>). <a href="#7" class="mim-tip-reference" title="Friesema, E. C. H., Grueters, A., Biebermann, H., Krude, H., von Moers, A., Reeser, M., Barrett, T. G., Mancilla, E. E., Svensson, J., Kester, M. H. A., Kuiper, G. G. J. M., Balkassmi, S., Uitterlinden, A. G., Koehrle, J., Rodien, P., Halestrap, A. P., Visser, T. J. <strong>Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.</strong> Lancet 364: 1435-1437, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15488219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15488219</a>] [<a href="https://doi.org/10.1016/S0140-6736(04)17226-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15488219">Friesema et al. (2004)</a> noted that the patients did not show typical peripheral symptoms of congenital hypothyroidism, suggesting that T3 uptake in these tissues, including bone, heart, intestine, and liver, was normal. The authors suggested that MCT8 is essential for T3 uptake in central neurons during development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15488219" 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="Schwartz, C. E., May, M. M., Carpenter, N. J., Rogers, R. C., Martin, J., Bialer, M. G., Ward, J., Sanabria, J., Marsa, S., Lewis, J. A., Echeverri, R., Lubs, H. A., Voeller, K., Simensen, R. J., Stevenson, R. E. <strong>Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.</strong> Am. J. Hum. Genet. 77: 41-53, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15889350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15889350</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15889350[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/431313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15889350">Schwartz et al. (2005)</a> studied 6 large families with the Allan-Herndon-Dudley syndrome, including the family originally reported by <a href="#1" class="mim-tip-reference" title="Allan, W., Herndon, C. N., Dudley, F. C. <strong>Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly.</strong> Am. J. Ment. Defic. 48: 325-334, 1944."None>Allan et al. (1944)</a>, and identified mutations in the MCT8 gene in all 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15889350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a large Brazilian family with AHDS originally reported by <a href="#13" class="mim-tip-reference" title="Passos-Bueno, M. R., Byth, B. C., Rosenberg, S., Takata, R. I., Bakker, E., Beggs, A. H., Pavanello, R. C., Vainzof, M., Davies, K. E., Zatz, M. <strong>Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?</strong> Am. J. Med. Genet. 46: 172-175, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8484404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8484404</a>] [<a href="https://doi.org/10.1002/ajmg.1320460214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8484404">Passos-Bueno et al. (1993)</a>, <a href="#12" class="mim-tip-reference" title="Maranduba, C. M. C., Friesema, E. C. H., Kok, F., Kester, M. H. A., Jansen, J., Sertie, A. L., Passos-Bueno, M. R., Visser, T. J. <strong>Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. (Letter)</strong> J. Med. Genet. 43: 457-460, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15980113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15980113</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15980113[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.035840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15980113">Maranduba et al. (2006)</a> identified a mutation in the SLC16A2 gene (<a href="#0011">300095.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8484404+15980113" 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 transfection of various mutant MCT8 proteins in JEG-3 and COS-1 cells, <a href="#10" class="mim-tip-reference" title="Jansen, J., Friesema, E. C., Kester, M. H., Schwartz, C. E., Visser, T. J. <strong>Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.</strong> Endocrinology 149: 2184-2190, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18187543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18187543</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18187543[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/en.2007-1475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18187543">Jansen et al. (2008)</a> found an association between mutations that resulted in some residual transporter activity and a slightly less severe phenotype. Transfection of wildtype MCT8 increased T3 uptake and metabolism about 5-fold compared to empty vector controls, whereas the mutants V235M, S448X (<a href="#0009">300095.0009</a>), insI189, and delF230 (<a href="#0010">300095.0010</a>) did not significantly increase transport and were similar to empty vector. Missense mutants S194F, L568P (<a href="#0007">300095.0007</a>), and L434W (<a href="#0008">300095.0008</a>) showed about 20%, 23%, and 37% of wildtype activity, respectively, consistent with residual function. Immunocytochemistry studies showed that the nonfunctional mutants V235M, insI189, and delF230 were mostly retained in the cytoplasm, whereas mutants with residual function were expressed at the plasma membrane. Mutants S194F and L434W showed high protein expression but low affinity for T3; L568P was detected in low amounts but showed relatively high affinity. <a href="#10" class="mim-tip-reference" title="Jansen, J., Friesema, E. C., Kester, M. H., Schwartz, C. E., Visser, T. J. <strong>Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.</strong> Endocrinology 149: 2184-2190, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18187543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18187543</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18187543[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/en.2007-1475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18187543">Jansen et al. (2008)</a> suggested that mutations in MCT8 cause loss of function through various mechanisms, including reduced protein expression, impaired trafficking to the plasma membrane, and reduced substrate affinity. Mutants L434W, L568P, and S194F showed significant residual transport capacity, which may explain the more advanced psychomotor development observed in patients with these mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18187543" 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="Dumitrescu, A. M., Liao, X.-H., Weiss, R. E., Millen, K., Refetoff, S. <strong>Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (Mct) 8-deficient mice.</strong> Endocrinology 147: 4036-4043, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16709608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16709608</a>] [<a href="https://doi.org/10.1210/en.2006-0390" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16709608">Dumitrescu et al. (2006)</a> found that male mice lacking Mct8 (Mct8 -/y) were viable, fertile, and grew normally. Mct8 -/y mice replicated the thyroid abnormalities observed in men with MCT8 mutations, with significantly higher serum T3 and lower T4 and rT3 than their wildtype littermates. However, Mct8 -/y mice showed no obvious motor abnormalities or neurologic phenotype. Female Mct8 -/- mice exhibited the same thyroid phenotype as Mct8 -/y males. Suppression of TSH required higher serum T3 level in Mct8 -/y mice than in wildtype littermates, indicating hypothalamus and/or thyrotroph resistance to T3, and T4 was required to maintain the high serum T3 level. Mct8 -/y mice had 2.3-fold higher T3 content in liver in association with 6.1- and 3.1-fold increases in deiodinase-1 (DIO1; <a href="/entry/147892">147892</a>) mRNA and activity, respectively. The relative T3 excess in liver produced a decrease in serum cholesterol and an increase in alkaline phosphatase (ALPL; <a href="/entry/171760">171760</a>) levels. In contrast, Mct8 -/y mice had 1.8-fold lower T3 content in cerebrum in association with 1.6- and 10.6-fold increases in Dio2 (<a href="/entry/601413">601413</a>) mRNA and activity, respectively. <a href="#5" class="mim-tip-reference" title="Dumitrescu, A. M., Liao, X.-H., Weiss, R. E., Millen, K., Refetoff, S. <strong>Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (Mct) 8-deficient mice.</strong> Endocrinology 147: 4036-4043, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16709608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16709608</a>] [<a href="https://doi.org/10.1210/en.2006-0390" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16709608">Dumitrescu et al. (2006)</a> concluded that tissue-specific differences in intracellular TH content are responsible for the unusual clinical presentation associated with MCT8 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16709608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Independently, <a href="#16" class="mim-tip-reference" title="Trajkovic, M., Visser, T. J., Mittag, J., Horn, S., Lukas, J., Darras, V. M., Raivich, G., Bauer, K., Heuer, H. <strong>Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8.</strong> J. Clin. Invest. 117: 627-635, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17318265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17318265</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17318265[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI28253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17318265">Trajkovic et al. (2007)</a> generated Mct8-null mice and found that they exhibited the same abnormal TH parameters as those reported by <a href="#5" class="mim-tip-reference" title="Dumitrescu, A. M., Liao, X.-H., Weiss, R. E., Millen, K., Refetoff, S. <strong>Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (Mct) 8-deficient mice.</strong> Endocrinology 147: 4036-4043, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16709608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16709608</a>] [<a href="https://doi.org/10.1210/en.2006-0390" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16709608">Dumitrescu et al. (2006)</a>. Mct8-null mice showed high T3/T4 ratio in association with increased liver Dio1 activity, and diminished uptake of radiolabeled T3 in brain, but not liver, in association with increased Dio2 activity and decreased Dio3 (<a href="/entry/601038">601038</a>) activity in brain. Cerebellar Purkinje cells of Mct8-null mice responded to T3 with the same increase in dendritic outgrowth as those from wildtype mice. In situ hybridization and densitometric analysis showed decreased Rc3 (NRGN; <a href="/entry/602350">602350</a>) in Mct8-null striatum that could be increased by T4 treatment. Expression of thyrotropin-releasing hormone (TRH; <a href="/entry/613879">613879</a>) in the paraventricular nucleus was upregulated in Mct8-null mice and could be downregulated in both wildtype and Mct8-null mice by high doses of T4. <a href="#16" class="mim-tip-reference" title="Trajkovic, M., Visser, T. J., Mittag, J., Horn, S., Lukas, J., Darras, V. M., Raivich, G., Bauer, K., Heuer, H. <strong>Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8.</strong> J. Clin. Invest. 117: 627-635, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17318265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17318265</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17318265[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI28253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17318265">Trajkovic et al. (2007)</a> concluded that circulating thyroid hormone levels in Mct8-null mice resemble those of humans with MCT8 mutations, but central nervous system development in mice is only partially affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17318265+16709608" 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="#18" class="mim-tip-reference" title="Wirth, E. K., Roth, S., Blechschmidt, C., Holter, S. M., Becker, L., Racz, I., Zimmer, A., Klopstock, T., Gailus-Durner, V., Fuchs, H., Wurst, W., Naumann, T., Brauer, A., Hrabe de Angelis, M., Kohrle, J., Gruters, A., Schweizer, U. <strong>Neuronal 3-prime,3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.</strong> J. Neurosci. 29: 9439-9449, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19641107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19641107</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.6055-08.2009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19641107">Wirth et al. (2009)</a> found that Mct8 -/y mice mimicked the human endocrinologic phenotype but appeared neurologically normal, including normal locomotion and grip strength. Only subtle behavioral changes were detected in Mct8 -/y mice, but these were characteristic of both euthyroid and dysthyroid states. Isolated primary cortical Mct8 -/y neurons exhibited residual T3 uptake, suggesting other transporters could compensate for loss of Mct8 in mouse. Several transporters capable of T3 transport were detected in mouse neurons, with Lat2 (SLC7A8; <a href="/entry/604235">604235</a>) showing highest expression. Immunohistochemical staining revealed both Mct8 and Lat2 expression in wildtype mouse neurons, but no LAT2 staining was detected in neurons during human fetal development. <a href="#18" class="mim-tip-reference" title="Wirth, E. K., Roth, S., Blechschmidt, C., Holter, S. M., Becker, L., Racz, I., Zimmer, A., Klopstock, T., Gailus-Durner, V., Fuchs, H., Wurst, W., Naumann, T., Brauer, A., Hrabe de Angelis, M., Kohrle, J., Gruters, A., Schweizer, U. <strong>Neuronal 3-prime,3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.</strong> J. Neurosci. 29: 9439-9449, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19641107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19641107</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.6055-08.2009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19641107">Wirth et al. (2009)</a> proposed that developing mice coexpress a second T3 transporter with Mct8, possibly Lat2, that is not coexpressed during human fetal development, and that this secondary T3 transporter spares Mct8-deficient mice from neurologic impairment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19641107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span href="#mimAllelicVariantsFold" id="mimAllelicVariantsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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</span>
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<strong>11 Selected Examples</a>):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
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<div>
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<a href="/allelicVariants/300095" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300095[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div>
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<p />
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<a id="0001" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0001 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
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</span>
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</h4>
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SLC16A2, LEU512PRO
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894931 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894931;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=rs104894931" 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=rs104894931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012398" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012398" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012398</a>
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</span>
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<span class="mim-text-font">
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<p>In affected members of a family in which males showed mental retardation, neurologic abnormalities, and abnormal relative concentrations of 3 circulating iodothyronines (AHDS; <a href="/entry/300523">300523</a>), <a href="#4" class="mim-tip-reference" title="Dumitrescu, A. M., Liao, X.-H., Best, T. B., Brockmann, K., Refetoff, S. <strong>A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.</strong> Am. J. Hum. Genet. 74: 168-175, 2004. Note: Erratum: Am. J. Hum. Genet. 74: 598 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14661163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14661163</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14661163[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/380999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14661163">Dumitrescu et al. (2004)</a> identified a leu512-to-pro (L512P) mutation in the MCT8 gene. Heterozygous females had a milder thyroid phenotype and no neurologic defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14661163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<a id="0002" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0002 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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SLC16A2, 1-BP DEL, 1212T
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</div>
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</span>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012399" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012399" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012399</a>
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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 affected members of a family in which males showed mental retardation, neurologic abnormalities, and abnormal relative concentrations of 3 circulating iodothyronines (AHDS; <a href="/entry/300523">300523</a>), <a href="#4" class="mim-tip-reference" title="Dumitrescu, A. M., Liao, X.-H., Best, T. B., Brockmann, K., Refetoff, S. <strong>A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.</strong> Am. J. Hum. Genet. 74: 168-175, 2004. Note: Erratum: Am. J. Hum. Genet. 74: 598 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14661163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14661163</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14661163[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/380999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14661163">Dumitrescu et al. (2004)</a> identified a 1-bp deletion (1212delT) in the MCT8 gene. Heterozygous females had a milder thyroid phenotype and no neurologic defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14661163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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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="0003" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0003 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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SLC16A2, ALA224VAL
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894936 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894936;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=rs104894936" 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=rs104894936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012400 OR RCV000790835" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012400, RCV000790835" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012400...</a>
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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><a href="#8" class="mim-tip-reference" title="Friesema, E., Grueters, A., Halestrap, A., Reeser, M., Visser, T. <strong>Mutations in a thyroid hormone transporter in patients with severe psychomotor retardation and high serum T3 levels. (Abstract)</strong> Thyroid 13: 672 only, 2003."None>Friesema et al. (2003)</a> described a boy with highly elevated serum T3 and severe mental retardation (AHDS; <a href="/entry/300523">300523</a>) who had a mutation in exon 2 of the MCT8 gene, resulting in an ala224-to-val (A224V) substitution in the second transmembrane domain of the protein. The mother was a carrier.</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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<a id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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SLC16A2, EX1DEL
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</div>
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</span>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012401" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012401" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012401</a>
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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 boy with elevated serum T3 and severe mental retardation (AHDS; <a href="/entry/300523">300523</a>), <a href="#8" class="mim-tip-reference" title="Friesema, E., Grueters, A., Halestrap, A., Reeser, M., Visser, T. <strong>Mutations in a thyroid hormone transporter in patients with severe psychomotor retardation and high serum T3 levels. (Abstract)</strong> Thyroid 13: 672 only, 2003."None>Friesema et al. (2003)</a> found complete absence of exon 1 of the MCT8 gene. Analysis of the size of the deletion of the X chromosome in this patient excluded the involvement of other genes.</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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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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SLC16A2, LEU397PRO
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs122455132 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs122455132;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=rs122455132" 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=rs122455132" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012402 OR RCV000224792" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012402, RCV000224792" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012402...</a>
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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 boy with elevated serum T3 and severe mental retardation (AHDS; <a href="/entry/300523">300523</a>), <a href="#7" class="mim-tip-reference" title="Friesema, E. C. H., Grueters, A., Biebermann, H., Krude, H., von Moers, A., Reeser, M., Barrett, T. G., Mancilla, E. E., Svensson, J., Kester, M. H. A., Kuiper, G. G. J. M., Balkassmi, S., Uitterlinden, A. G., Koehrle, J., Rodien, P., Halestrap, A. P., Visser, T. J. <strong>Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.</strong> Lancet 364: 1435-1437, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15488219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15488219</a>] [<a href="https://doi.org/10.1016/S0140-6736(04)17226-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15488219">Friesema et al. (2004)</a> identified a T-to-C transition in exon 5 of the MCT8 gene, resulting in a leu397-to-pro (L397P) substitution in the ninth transmembrane domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15488219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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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="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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SLC16A2, 2.4-KB DEL
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</div>
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</span>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012403" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012403" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012403</a>
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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 boy with elevated serum T3 and severe mental retardation (AHDS; <a href="/entry/300523">300523</a>), <a href="#7" class="mim-tip-reference" title="Friesema, E. C. H., Grueters, A., Biebermann, H., Krude, H., von Moers, A., Reeser, M., Barrett, T. G., Mancilla, E. E., Svensson, J., Kester, M. H. A., Kuiper, G. G. J. M., Balkassmi, S., Uitterlinden, A. G., Koehrle, J., Rodien, P., Halestrap, A. P., Visser, T. J. <strong>Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.</strong> Lancet 364: 1435-1437, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15488219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15488219</a>] [<a href="https://doi.org/10.1016/S0140-6736(04)17226-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15488219">Friesema et al. (2004)</a> identified a 2.4-kb deletion in the MCT8 gene, consisting of part of exon 3, all of intron 3 and exon 4, and part of intron 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15488219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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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="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 ALLAN-HERNDON-DUDLEY SYNDROME</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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<div style="float: left;">
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SLC16A2, LEU568PRO
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894938 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894938;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=rs104894938" 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=rs104894938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In the original family (K8005) with Allan-Herndon-Dudley syndrome (AHDS; <a href="/entry/300523">300523</a>) reported by <a href="#1" class="mim-tip-reference" title="Allan, W., Herndon, C. N., Dudley, F. C. <strong>Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly.</strong> Am. J. Ment. Defic. 48: 325-334, 1944."None>Allan et al. (1944)</a>, <a href="#15" class="mim-tip-reference" title="Schwartz, C. E., May, M. M., Carpenter, N. J., Rogers, R. C., Martin, J., Bialer, M. G., Ward, J., Sanabria, J., Marsa, S., Lewis, J. A., Echeverri, R., Lubs, H. A., Voeller, K., Simensen, R. J., Stevenson, R. E. <strong>Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.</strong> Am. J. Hum. Genet. 77: 41-53, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15889350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15889350</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15889350[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/431313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15889350">Schwartz et al. (2005)</a> identified a 1703T-C transition in exon 6 of the MCT8 gene that resulted in a leu568-to-pro (L568P) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15889350" 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 cellular studies, <a href="#10" class="mim-tip-reference" title="Jansen, J., Friesema, E. C., Kester, M. H., Schwartz, C. E., Visser, T. J. <strong>Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.</strong> Endocrinology 149: 2184-2190, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18187543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18187543</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18187543[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/en.2007-1475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18187543">Jansen et al. (2008)</a> found that the L568P mutant was expressed at the plasma membrane and had about 23% of wildtype activity. <a href="#10" class="mim-tip-reference" title="Jansen, J., Friesema, E. C., Kester, M. H., Schwartz, C. E., Visser, T. J. <strong>Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.</strong> Endocrinology 149: 2184-2190, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18187543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18187543</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18187543[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/en.2007-1475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18187543">Jansen et al. (2008)</a> suggested that this residual activity may underlie the slightly less severe phenotype, in which affected individuals with the L568P mutation acquired ataxic walking and elementary dysarthric speech, as opposed to no development in patients with truncating SLC16A2 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18187543" 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">rs104894939 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894939;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=rs104894939" 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=rs104894939" 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=RCV000012405" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012405" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012405</a>
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<p>In a family (K8090) with Allan-Herndon-Dudley syndrome (AHDS; <a href="/entry/300523">300523</a>) reported by <a href="#2" class="mim-tip-reference" title="Bialer, M. G., Lawrence, L., Stevenson, R. E., Silverberg, G., Williams, M. K., Arena, J. F., Lubs, H. A., Schwartz, C. E. <strong>Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family.</strong> Am. J. Med. Genet. 43: 491-497, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1605231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1605231</a>] [<a href="https://doi.org/10.1002/ajmg.1320430173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1605231">Bialer et al. (1992)</a>, <a href="#15" class="mim-tip-reference" title="Schwartz, C. E., May, M. M., Carpenter, N. J., Rogers, R. C., Martin, J., Bialer, M. G., Ward, J., Sanabria, J., Marsa, S., Lewis, J. A., Echeverri, R., Lubs, H. A., Voeller, K., Simensen, R. J., Stevenson, R. E. <strong>Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.</strong> Am. J. Hum. Genet. 77: 41-53, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15889350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15889350</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15889350[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/431313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15889350">Schwartz et al. (2005)</a> identified a leu434-to-trp (L434W) mutation in monocarboxylate transporter-8 that was caused by a 1301T-G transversion in exon 4 of the MCT8 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15889350+1605231" 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 cellular studies, <a href="#10" class="mim-tip-reference" title="Jansen, J., Friesema, E. C., Kester, M. H., Schwartz, C. E., Visser, T. J. <strong>Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.</strong> Endocrinology 149: 2184-2190, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18187543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18187543</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18187543[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/en.2007-1475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18187543">Jansen et al. (2008)</a> found that the L434W mutant was expressed at the plasma membrane and had about 37% of wildtype activity. <a href="#10" class="mim-tip-reference" title="Jansen, J., Friesema, E. C., Kester, M. H., Schwartz, C. E., Visser, T. J. <strong>Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.</strong> Endocrinology 149: 2184-2190, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18187543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18187543</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18187543[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/en.2007-1475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18187543">Jansen et al. (2008)</a> suggested that this residual activity may underlie the slightly less severe phenotype, in which affected individuals with the L434W mutation acquired ataxic walking and elementary dysarthric speech, as opposed to no development in patients with truncating SLC16A2 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18187543" 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 ALLAN-HERNDON-DUDLEY SYNDROME</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">rs104894940 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894940;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=rs104894940" 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=rs104894940" 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=RCV000012406" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012406" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012406</a>
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<p>In family K8900 with Allan-Herndon-Dudley syndrome (AHDS; <a href="/entry/300523">300523</a>), which had lived for many generations in Mississippi and was presumed to be of western European white ancestry, <a href="#15" class="mim-tip-reference" title="Schwartz, C. E., May, M. M., Carpenter, N. J., Rogers, R. C., Martin, J., Bialer, M. G., Ward, J., Sanabria, J., Marsa, S., Lewis, J. A., Echeverri, R., Lubs, H. A., Voeller, K., Simensen, R. J., Stevenson, R. E. <strong>Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.</strong> Am. J. Hum. Genet. 77: 41-53, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15889350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15889350</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15889350[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/431313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15889350">Schwartz et al. (2005)</a> found that the disorder was related to a 1343C-A transversion in exon 4 of the MCT8 gene that gave rise to a nonsense mutation, ser448 to stop (S448X), in the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15889350" 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 cellular studies, <a href="#10" class="mim-tip-reference" title="Jansen, J., Friesema, E. C., Kester, M. H., Schwartz, C. E., Visser, T. J. <strong>Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.</strong> Endocrinology 149: 2184-2190, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18187543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18187543</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18187543[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/en.2007-1475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18187543">Jansen et al. (2008)</a> found that the S448X mutant was mostly retained in the cytoplasm and had less than 5% activity of wildtype. Patients with the S448X mutation did not acquire independent walking or speech development, consistent with a severe loss of transporter activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18187543" 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">rs113994164 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994164;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=rs113994164" 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=rs113994164" 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">rs387906501 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906501;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=rs387906501" 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=rs387906501" 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=RCV000012407 OR RCV001091604" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012407, RCV001091604" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012407...</a>
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<p>In family K9251 of Hispanic ancestry with Allan-Herndon-Dudley syndrome (AHDS; <a href="/entry/300523">300523</a>), <a href="#15" class="mim-tip-reference" title="Schwartz, C. E., May, M. M., Carpenter, N. J., Rogers, R. C., Martin, J., Bialer, M. G., Ward, J., Sanabria, J., Marsa, S., Lewis, J. A., Echeverri, R., Lubs, H. A., Voeller, K., Simensen, R. J., Stevenson, R. E. <strong>Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.</strong> Am. J. Hum. Genet. 77: 41-53, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15889350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15889350</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15889350[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/431313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15889350">Schwartz et al. (2005)</a> found that the phenotype was associated with an in-frame deletion of 3 nucleotides in exon 2 of the MCT8 gene, 683delTCT, resulting in deletion of phenylalanine-230 (delF230). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15889350" 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 cellular studies, <a href="#10" class="mim-tip-reference" title="Jansen, J., Friesema, E. C., Kester, M. H., Schwartz, C. E., Visser, T. J. <strong>Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.</strong> Endocrinology 149: 2184-2190, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18187543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18187543</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18187543[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/en.2007-1475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18187543">Jansen et al. (2008)</a> found that the delF230 mutant was mostly retained in the cytoplasm and had less than 5% activity of wildtype. Patients with the deletion did not acquire independent walking or speech development, consistent with a severe loss of transporter activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18187543" 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>.0011 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
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SLC16A2, 1-BP DEL, 1834C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs113994166 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994166;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=rs113994166" 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=rs113994166" 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=RCV000012408" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012408" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012408</a>
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<p>In affected members of a large Brazilian family with Allan-Herndon-Dudley syndrome (AHDS; <a href="/entry/300523">300523</a>), originally reported by <a href="#13" class="mim-tip-reference" title="Passos-Bueno, M. R., Byth, B. C., Rosenberg, S., Takata, R. I., Bakker, E., Beggs, A. H., Pavanello, R. C., Vainzof, M., Davies, K. E., Zatz, M. <strong>Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?</strong> Am. J. Med. Genet. 46: 172-175, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8484404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8484404</a>] [<a href="https://doi.org/10.1002/ajmg.1320460214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8484404">Passos-Bueno et al. (1993)</a>, <a href="#12" class="mim-tip-reference" title="Maranduba, C. M. C., Friesema, E. C. H., Kok, F., Kester, M. H. A., Jansen, J., Sertie, A. L., Passos-Bueno, M. R., Visser, T. J. <strong>Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. (Letter)</strong> J. Med. Genet. 43: 457-460, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15980113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15980113</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15980113[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.035840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15980113">Maranduba et al. (2006)</a> identified a 1-bp deletion (1834delC) in the SLC16A2 gene. The deletion is predicted to result in a frameshift and abnormal C terminus with an additional 64 amino acids. Serum T3 and free T3 levels were elevated in all affected males, whereas normal levels were found among obligate female carriers. In vitro functional expression studies suggested that the mutant protein results in decreased cellular T3 uptake and intracellular T3 metabolism. <a href="#12" class="mim-tip-reference" title="Maranduba, C. M. C., Friesema, E. C. H., Kok, F., Kester, M. H. A., Jansen, J., Sertie, A. L., Passos-Bueno, M. R., Visser, T. J. <strong>Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. (Letter)</strong> J. Med. Genet. 43: 457-460, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15980113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15980113</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15980113[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.035840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15980113">Maranduba et al. (2006)</a> suggested that the severe neurologic defects in these patients result from deficiency of intracellular T3 and altered T3 metabolism in central neurons. In addition, the severe muscle hypoplasia observed may also result from high serum T3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8484404+15980113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="Allan1944" class="mim-anchor"></a>
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Allan, W., Herndon, C. N., Dudley, F. C.
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<strong>Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly.</strong>
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Am. J. Ment. Defic. 48: 325-334, 1944.
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Bialer, M. G., Lawrence, L., Stevenson, R. E., Silverberg, G., Williams, M. K., Arena, J. F., Lubs, H. A., Schwartz, C. E.
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<strong>Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1605231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1605231</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1605231" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320430173" target="_blank">Full Text</a>]
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Debrand, E., Heard, E., Avner, P.
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<strong>Cloning and localization of the murine Xpct gene: evidence for complex rearrangements during the evolution of the region around the Xist gene.</strong>
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Genomics 48: 296-303, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545634</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9545634" 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/10.1006/geno.1997.5173" target="_blank">Full Text</a>]
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Dumitrescu, A. M., Liao, X.-H., Best, T. B., Brockmann, K., Refetoff, S.
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<strong>A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.</strong>
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Am. J. Hum. Genet. 74: 168-175, 2004. Note: Erratum: Am. J. Hum. Genet. 74: 598 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14661163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14661163</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14661163[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14661163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/380999" target="_blank">Full Text</a>]
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Dumitrescu, A. M., Liao, X.-H., Weiss, R. E., Millen, K., Refetoff, S.
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<strong>Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (Mct) 8-deficient mice.</strong>
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Endocrinology 147: 4036-4043, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16709608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16709608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16709608" 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/10.1210/en.2006-0390" target="_blank">Full Text</a>]
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Friesema, E. C. H., Ganguly, S., Abdalla, A., Manning Fox, J. E., Halestrap, A. P., Visser, T. J.
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<strong>Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.</strong>
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J. Biol. Chem. 278: 40128-40135, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12871948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12871948</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12871948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Friesema, E. C. H., Grueters, A., Biebermann, H., Krude, H., von Moers, A., Reeser, M., Barrett, T. G., Mancilla, E. E., Svensson, J., Kester, M. H. A., Kuiper, G. G. J. M., Balkassmi, S., Uitterlinden, A. G., Koehrle, J., Rodien, P., Halestrap, A. P., Visser, T. J.
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<strong>Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.</strong>
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Lancet 364: 1435-1437, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15488219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15488219</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15488219" 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/S0140-6736(04)17226-7" target="_blank">Full Text</a>]
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Friesema, E., Grueters, A., Halestrap, A., Reeser, M., Visser, T.
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<strong>Mutations in a thyroid hormone transporter in patients with severe psychomotor retardation and high serum T3 levels. (Abstract)</strong>
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Thyroid 13: 672 only, 2003.
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Frints, S. G. M., Lenzner, S., Bauters, M., Jensen, L. R., Van Esch, H., des Portes, V., Moog, U., Macville, M. V. E., van Roozendaal, K., Schrander-Stumpel, C. T. R. M., Tzschach, A., Marynen, P., and 12 others.
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<strong>MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.</strong>
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Europ. J. Hum. Genet. 16: 1029-1037, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18398436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18398436</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18398436" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2008.66" target="_blank">Full Text</a>]
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Jansen, J., Friesema, E. C., Kester, M. H., Schwartz, C. E., Visser, T. J.
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<strong>Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.</strong>
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Endocrinology 149: 2184-2190, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18187543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18187543</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18187543[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18187543" 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/10.1210/en.2007-1475" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Lafreniere1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Lafreniere, R. G., Carrel, L., Willard, H. F.
|
|
<strong>A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.</strong>
|
|
Hum. Molec. Genet. 3: 1133-1139, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7981683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7981683</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7981683" 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/10.1093/hmg/3.7.1133" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Maranduba2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Maranduba, C. M. C., Friesema, E. C. H., Kok, F., Kester, M. H. A., Jansen, J., Sertie, A. L., Passos-Bueno, M. R., Visser, T. J.
|
|
<strong>Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. (Letter)</strong>
|
|
J. Med. Genet. 43: 457-460, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15980113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15980113</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15980113[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15980113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2005.035840" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Passos-Bueno1993" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Passos-Bueno, M. R., Byth, B. C., Rosenberg, S., Takata, R. I., Bakker, E., Beggs, A. H., Pavanello, R. C., Vainzof, M., Davies, K. E., Zatz, M.
|
|
<strong>Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?</strong>
|
|
Am. J. Med. Genet. 46: 172-175, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8484404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8484404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8484404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320460214" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Roberts2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Roberts, L. M., Woodford, K., Zhou, M., Black, D. S., Haggerty, J. E., Tate, E. H., Grindstaff, K. K., Mengesha, W., Raman, C., Zerangue, N.
|
|
<strong>Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier.</strong>
|
|
Endocrinology 149: 6251-6261, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18687783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18687783</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18687783" 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/10.1210/en.2008-0378" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Schwartz2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schwartz, C. E., May, M. M., Carpenter, N. J., Rogers, R. C., Martin, J., Bialer, M. G., Ward, J., Sanabria, J., Marsa, S., Lewis, J. A., Echeverri, R., Lubs, H. A., Voeller, K., Simensen, R. J., Stevenson, R. E.
|
|
<strong>Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.</strong>
|
|
Am. J. Hum. Genet. 77: 41-53, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15889350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15889350</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15889350[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15889350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/431313" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Trajkovic2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Trajkovic, M., Visser, T. J., Mittag, J., Horn, S., Lukas, J., Darras, V. M., Raivich, G., Bauer, K., Heuer, H.
|
|
<strong>Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8.</strong>
|
|
J. Clin. Invest. 117: 627-635, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17318265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17318265</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17318265[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17318265" 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/10.1172/JCI28253" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Visser2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Visser, W. E., Swagemakers, S. M. A., Ozgur, Z., Schot, R., Verheijen, F. W., van Ijcken, W. F. J., van der Spek, P. J., Visser, T. J.
|
|
<strong>Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.</strong>
|
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Hum. Molec. Genet. 19: 4189-4200, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20705735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20705735</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20705735[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20705735" 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/10.1093/hmg/ddq337" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Wirth2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wirth, E. K., Roth, S., Blechschmidt, C., Holter, S. M., Becker, L., Racz, I., Zimmer, A., Klopstock, T., Gailus-Durner, V., Fuchs, H., Wurst, W., Naumann, T., Brauer, A., Hrabe de Angelis, M., Kohrle, J., Gruters, A., Schweizer, U.
|
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<strong>Neuronal 3-prime,3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.</strong>
|
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J. Neurosci. 29: 9439-9449, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19641107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19641107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19641107" 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/10.1523/JNEUROSCI.6055-08.2009" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller - updated : 06/23/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 4/30/2010<br>Patricia A. Hartz - updated : 4/29/2010<br>Cassandra L. Kniffin - updated : 4/15/2010<br>Cassandra L. Kniffin - updated : 1/8/2009<br>Paul J. Converse - updated : 5/3/2007<br>Cassandra L. Kniffin - updated : 6/13/2006<br>Victor A. McKusick - updated : 6/17/2005<br>Cassandra L. Kniffin - updated : 2/14/2005<br>Victor A. McKusick - updated : 1/23/2004<br>Victor A. McKusick - updated : 1/6/2004
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 10/22/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 06/23/2017
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/15/2017<br>carol : 04/20/2011<br>mgross : 4/30/2010<br>mgross : 4/29/2010<br>wwang : 4/28/2010<br>ckniffin : 4/15/2010<br>joanna : 4/12/2010<br>wwang : 1/20/2009<br>ckniffin : 1/8/2009<br>mgross : 5/17/2007<br>terry : 5/3/2007<br>wwang : 6/16/2006<br>ckniffin : 6/13/2006<br>alopez : 6/22/2005<br>terry : 6/17/2005<br>ckniffin : 2/14/2005<br>tkritzer : 3/26/2004<br>ckniffin : 3/23/2004<br>joanna : 3/17/2004<br>tkritzer : 2/5/2004<br>tkritzer : 2/5/2004<br>terry : 1/23/2004<br>carol : 1/7/2004<br>tkritzer : 1/7/2004<br>terry : 1/6/2004<br>joanna : 1/6/2004<br>mgross : 2/6/2003<br>joanna : 10/22/1997
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 300095
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 2; SLC16A2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<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">
|
|
MONOCARBOXYLATE TRANSPORTER 8; MCT8<br />
|
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X-LINKED PEST-CONTAINING TRANSPORTER; XPCT<br />
|
|
DXS128E
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SLC16A2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 702327009;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
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Cytogenetic location: Xq13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : X:74,421,493-74,533,916 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
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|
<th>
|
|
Inheritance
|
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</th>
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|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
Xq13.2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Allan-Herndon-Dudley syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
300523
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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|
|
|
<div>
|
|
<br />
|
|
</div>
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|
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<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
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<span class="mim-text-font">
|
|
<p>In the course of physical characterization of the region in Xq13.2 known to contain the X-inactivation center (XIC; 314670), Lafreniere et al. (1994) isolated the SLC16A2 gene, previously identified as DXS128E, by positional cloning. The gene encodes a predicted 539-amino acid protein with a molecular mass of 67 kD. The protein contains 12 hydrophobic transmembrane domains, characteristic of a family of transporter proteins. The presence of an N-terminal PEST domain, consisting mainly of proline/glutamic acid repeats, suggested that the protein may be rapidly or conditionally degraded. Lafreniere et al. (1994) designated the gene XPCT for X-linked PEST-containing transporter. Expression studies indicated that XPCT is subject to X-chromosome inactivation, being expressed only from the active X, despite mapping within 600 kb of the XIST gene, which is expressed exclusively from the inactive X. (The XIC is defined in humans and mice as the minimal region of overlap retained in a series of X-chromosome translocations and deletions that could undergo inactivation. In humans, the XIC region is limited to a 680-1200 kb interval in Xq13.2.) </p><p>Debrand et al. (1998) demonstrated that the mouse homolog of MCT8 shows 85% nucleotide identity with the human gene, with conservation of the overall protein structure. Northern blot analysis of mouse tissues revealed highest expression of a 4.4-kb Xpct transcript in liver and kidney, with lower expression in heart, brain, and lung. Little to no expression was detected in spleen, testis, and skeletal muscle. Debrand et al. (1998) noted that humans show a slightly different expression pattern, with low XPCT expression in kidney and an additional 7-kb transcript in skeletal muscle. In mouse embryos, Xpct expression was detected at 7 days postcoitum, and expression increased during development. </p><p>Frints et al. (2008) presented evidence suggesting that the met75 residue is the relevant start codon for SLC16A2 translation. An A-to-T transversion affecting the met1 residue was found in a healthy individual, indicating that a change at that codon did not affect protein translation. </p><p>By immunohistochemical analysis of human fetal brain, Wirth et al. (2009) detected earliest MCT8 expression in blood vessels at gestational week 25 (GW25), and this expression continued until GW40. MCT8 immunoreactivity was also found in developing neurons. The mature neuronal expression pattern was established in the hippocampus and cortex from GW32, with prominent expression in these areas by GW40. MCT8 also located on the apical side of the choroid plexus. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Friesema et al. (2003) demonstrated thyroid hormone transport function in the rat homolog of MCT8 by in vitro expression in Xenopus oocytes. A 10-fold increase in the uptake of a variety of iodothyronines was observed. The 4 amino acids tyrosine, tryptophan, phenylalanine, and leucine did not compete with the transport of iodothyronines. </p><p>OATP14 (SLCO1C1; 613389) transports T4, T3, and the inactive metabolite rT3. Roberts et al. (2008) compared MCT8 and OATP14 mRNA and protein expression in human, mouse, and rat brain. In addition to neurons, MCT8 was expressed in cerebral microvessels in all species. In contrast, OATP14 mRNA and protein were enriched in rodent cerebral microvessels, but not in human microvessels. Immunohistochemical analysis of rodent and human choroid plexus epithelial cells revealed that MCT8 localized primarily to the epithelial cell apical surface, whereas OATP14 localized to both the apical and basolateral surfaces, with higher accumulation on basolateral surfaces. Tanycytes lining the third ventricle of mouse brain showed enriched Mct8 and Oatp14 expression. Roberts et al. (2008) suggested that MCT8 and OATP14 may function as a pair to transport T4 from the blood into the cerebrospinal fluid and to efflux thyroid hormones or their inactive metabolites from the cerebral spinal fluid to blood. </p><p>Thyroid hormone (TH) transporters control TH homeostasis in brain, as evidenced by the complex endocrine and neurologic phenotype of patients with Allan-Herndon-Dudley syndrome, caused by mutations in MCT8 (see MOLECULAR GENETICS). Visser et al. (2010) analyzed gene expression profiles in fibroblasts from patients with MCT8 mutations. Studying MCT8 and its transcriptional context in different comprehensive spatial and temporal human brain transcriptome data sets revealed distinct region-specific MCT8 expression. Furthermore, MCT8 demonstrated a clear age-dependent decrease, suggesting its importance in early brain development. Genes differentially expressed in patient fibroblasts were linked, by comparative transcriptome analysis, to the human brain transcriptome. Differentially expressed genes in patient fibroblasts were strongly overrepresented among genes highly correlated with MCT8 expression in brain. In addition, genes were identified in the classical TH signaling pathway that were affected in patients. Expression of the thyroid hormone receptor-2 (THRA2; see 190120) variant closely followed expression of MCT8 in brain, much more so than other thyroid receptor isoforms. Visser et al. (2010) concluded that there is a functional relationship between MCT8 and THRA2, and suggested a role for THRA2 in the (patho)physiology of TH signaling in the brain. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Lafreniere et al. (1994) mapped the SLC16A2 gene to chromosome Xq13.2. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 unrelated families in which males had severe mental retardation associated with increased serum T3 (Allan-Herndon-Dudley syndrome, AHDS; 300523), Dumitrescu et al. (2004) identified 2 different mutations in the MCT8 gene (300095.0001; 300095.0002). Heterozygous females had a milder thyroid phenotype and no neurologic defects. Despite mild perturbation of thyroid hormone levels, the lack of other stigmata of generalized thyroid hormone deprivation, and the lack of neurologic improvement even after the normalization of serum TSH during treatment with thyroid hormone, the severe phenotype suggested possible preferential function in brain tissue. However, Dumitrescu et al. (2004) found similar expression of MCT8 mRNA in different human tissues. The discrepancy between the thyroid and neurologic findings raised the possibility that the action of MCT8 in the brain may be unrelated to thyroid hormone transport. </p><p>In 2 unrelated boys with mental retardation and increased serum T3, Friesema et al. (2003) identified 2 different mutations in the MCT8 gene (300095.0003; 300095.0004).</p><p>In 5 unrelated patients with neurologic abnormalities and increased serum T3, Friesema et al. (2004) identified 5 different mutations in the MCT8 gene (see, e.g., 300095.0005-300095.0006). Friesema et al. (2004) noted that the patients did not show typical peripheral symptoms of congenital hypothyroidism, suggesting that T3 uptake in these tissues, including bone, heart, intestine, and liver, was normal. The authors suggested that MCT8 is essential for T3 uptake in central neurons during development. </p><p>Schwartz et al. (2005) studied 6 large families with the Allan-Herndon-Dudley syndrome, including the family originally reported by Allan et al. (1944), and identified mutations in the MCT8 gene in all 6. </p><p>In affected members of a large Brazilian family with AHDS originally reported by Passos-Bueno et al. (1993), Maranduba et al. (2006) identified a mutation in the SLC16A2 gene (300095.0011). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By transfection of various mutant MCT8 proteins in JEG-3 and COS-1 cells, Jansen et al. (2008) found an association between mutations that resulted in some residual transporter activity and a slightly less severe phenotype. Transfection of wildtype MCT8 increased T3 uptake and metabolism about 5-fold compared to empty vector controls, whereas the mutants V235M, S448X (300095.0009), insI189, and delF230 (300095.0010) did not significantly increase transport and were similar to empty vector. Missense mutants S194F, L568P (300095.0007), and L434W (300095.0008) showed about 20%, 23%, and 37% of wildtype activity, respectively, consistent with residual function. Immunocytochemistry studies showed that the nonfunctional mutants V235M, insI189, and delF230 were mostly retained in the cytoplasm, whereas mutants with residual function were expressed at the plasma membrane. Mutants S194F and L434W showed high protein expression but low affinity for T3; L568P was detected in low amounts but showed relatively high affinity. Jansen et al. (2008) suggested that mutations in MCT8 cause loss of function through various mechanisms, including reduced protein expression, impaired trafficking to the plasma membrane, and reduced substrate affinity. Mutants L434W, L568P, and S194F showed significant residual transport capacity, which may explain the more advanced psychomotor development observed in patients with these mutations. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Dumitrescu et al. (2006) found that male mice lacking Mct8 (Mct8 -/y) were viable, fertile, and grew normally. Mct8 -/y mice replicated the thyroid abnormalities observed in men with MCT8 mutations, with significantly higher serum T3 and lower T4 and rT3 than their wildtype littermates. However, Mct8 -/y mice showed no obvious motor abnormalities or neurologic phenotype. Female Mct8 -/- mice exhibited the same thyroid phenotype as Mct8 -/y males. Suppression of TSH required higher serum T3 level in Mct8 -/y mice than in wildtype littermates, indicating hypothalamus and/or thyrotroph resistance to T3, and T4 was required to maintain the high serum T3 level. Mct8 -/y mice had 2.3-fold higher T3 content in liver in association with 6.1- and 3.1-fold increases in deiodinase-1 (DIO1; 147892) mRNA and activity, respectively. The relative T3 excess in liver produced a decrease in serum cholesterol and an increase in alkaline phosphatase (ALPL; 171760) levels. In contrast, Mct8 -/y mice had 1.8-fold lower T3 content in cerebrum in association with 1.6- and 10.6-fold increases in Dio2 (601413) mRNA and activity, respectively. Dumitrescu et al. (2006) concluded that tissue-specific differences in intracellular TH content are responsible for the unusual clinical presentation associated with MCT8 mutations. </p><p>Independently, Trajkovic et al. (2007) generated Mct8-null mice and found that they exhibited the same abnormal TH parameters as those reported by Dumitrescu et al. (2006). Mct8-null mice showed high T3/T4 ratio in association with increased liver Dio1 activity, and diminished uptake of radiolabeled T3 in brain, but not liver, in association with increased Dio2 activity and decreased Dio3 (601038) activity in brain. Cerebellar Purkinje cells of Mct8-null mice responded to T3 with the same increase in dendritic outgrowth as those from wildtype mice. In situ hybridization and densitometric analysis showed decreased Rc3 (NRGN; 602350) in Mct8-null striatum that could be increased by T4 treatment. Expression of thyrotropin-releasing hormone (TRH; 613879) in the paraventricular nucleus was upregulated in Mct8-null mice and could be downregulated in both wildtype and Mct8-null mice by high doses of T4. Trajkovic et al. (2007) concluded that circulating thyroid hormone levels in Mct8-null mice resemble those of humans with MCT8 mutations, but central nervous system development in mice is only partially affected. </p><p>Wirth et al. (2009) found that Mct8 -/y mice mimicked the human endocrinologic phenotype but appeared neurologically normal, including normal locomotion and grip strength. Only subtle behavioral changes were detected in Mct8 -/y mice, but these were characteristic of both euthyroid and dysthyroid states. Isolated primary cortical Mct8 -/y neurons exhibited residual T3 uptake, suggesting other transporters could compensate for loss of Mct8 in mouse. Several transporters capable of T3 transport were detected in mouse neurons, with Lat2 (SLC7A8; 604235) showing highest expression. Immunohistochemical staining revealed both Mct8 and Lat2 expression in wildtype mouse neurons, but no LAT2 staining was detected in neurons during human fetal development. Wirth et al. (2009) proposed that developing mice coexpress a second T3 transporter with Mct8, possibly Lat2, that is not coexpressed during human fetal development, and that this secondary T3 transporter spares Mct8-deficient mice from neurologic impairment. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>11 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC16A2, LEU512PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894931,
|
|
|
|
|
|
|
|
ClinVar: RCV000012398
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family in which males showed mental retardation, neurologic abnormalities, and abnormal relative concentrations of 3 circulating iodothyronines (AHDS; 300523), Dumitrescu et al. (2004) identified a leu512-to-pro (L512P) mutation in the MCT8 gene. Heterozygous females had a milder thyroid phenotype and no neurologic defects. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC16A2, 1-BP DEL, 1212T
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000012399
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family in which males showed mental retardation, neurologic abnormalities, and abnormal relative concentrations of 3 circulating iodothyronines (AHDS; 300523), Dumitrescu et al. (2004) identified a 1-bp deletion (1212delT) in the MCT8 gene. Heterozygous females had a milder thyroid phenotype and no neurologic defects. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC16A2, ALA224VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894936,
|
|
|
|
|
|
|
|
ClinVar: RCV000012400, RCV000790835
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Friesema et al. (2003) described a boy with highly elevated serum T3 and severe mental retardation (AHDS; 300523) who had a mutation in exon 2 of the MCT8 gene, resulting in an ala224-to-val (A224V) substitution in the second transmembrane domain of the protein. The mother was a carrier.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC16A2, EX1DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000012401
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with elevated serum T3 and severe mental retardation (AHDS; 300523), Friesema et al. (2003) found complete absence of exon 1 of the MCT8 gene. Analysis of the size of the deletion of the X chromosome in this patient excluded the involvement of other genes.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC16A2, LEU397PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs122455132,
|
|
|
|
|
|
|
|
ClinVar: RCV000012402, RCV000224792
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with elevated serum T3 and severe mental retardation (AHDS; 300523), Friesema et al. (2004) identified a T-to-C transition in exon 5 of the MCT8 gene, resulting in a leu397-to-pro (L397P) substitution in the ninth transmembrane domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC16A2, 2.4-KB DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000012403
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with elevated serum T3 and severe mental retardation (AHDS; 300523), Friesema et al. (2004) identified a 2.4-kb deletion in the MCT8 gene, consisting of part of exon 3, all of intron 3 and exon 4, and part of intron 4. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0007 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC16A2, LEU568PRO
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<br />
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|
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SNP: rs104894938,
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ClinVar: RCV000012404
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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 the original family (K8005) with Allan-Herndon-Dudley syndrome (AHDS; 300523) reported by Allan et al. (1944), Schwartz et al. (2005) identified a 1703T-C transition in exon 6 of the MCT8 gene that resulted in a leu568-to-pro (L568P) substitution. </p><p>By in vitro cellular studies, Jansen et al. (2008) found that the L568P mutant was expressed at the plasma membrane and had about 23% of wildtype activity. Jansen et al. (2008) suggested that this residual activity may underlie the slightly less severe phenotype, in which affected individuals with the L568P mutation acquired ataxic walking and elementary dysarthric speech, as opposed to no development in patients with truncating SLC16A2 mutations. </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>.0008 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC16A2, LEU434TRP
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<br />
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SNP: rs104894939,
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ClinVar: RCV000012405
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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 family (K8090) with Allan-Herndon-Dudley syndrome (AHDS; 300523) reported by Bialer et al. (1992), Schwartz et al. (2005) identified a leu434-to-trp (L434W) mutation in monocarboxylate transporter-8 that was caused by a 1301T-G transversion in exon 4 of the MCT8 gene. </p><p>By in vitro cellular studies, Jansen et al. (2008) found that the L434W mutant was expressed at the plasma membrane and had about 37% of wildtype activity. Jansen et al. (2008) suggested that this residual activity may underlie the slightly less severe phenotype, in which affected individuals with the L434W mutation acquired ataxic walking and elementary dysarthric speech, as opposed to no development in patients with truncating SLC16A2 mutations. </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>.0009 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
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SLC16A2, SER448TER
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<br />
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|
|
SNP: rs104894940,
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|
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ClinVar: RCV000012406
|
|
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|
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</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In family K8900 with Allan-Herndon-Dudley syndrome (AHDS; 300523), which had lived for many generations in Mississippi and was presumed to be of western European white ancestry, Schwartz et al. (2005) found that the disorder was related to a 1343C-A transversion in exon 4 of the MCT8 gene that gave rise to a nonsense mutation, ser448 to stop (S448X), in the protein. </p><p>By in vitro cellular studies, Jansen et al. (2008) found that the S448X mutant was mostly retained in the cytoplasm and had less than 5% activity of wildtype. Patients with the S448X mutation did not acquire independent walking or speech development, consistent with a severe loss of transporter activity. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
|
SLC16A2, 3-BP DEL, 683TCT
|
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|
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<br />
|
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|
|
SNP: rs113994164, rs387906501,
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|
|
ClinVar: RCV000012407, RCV001091604
|
|
|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In family K9251 of Hispanic ancestry with Allan-Herndon-Dudley syndrome (AHDS; 300523), Schwartz et al. (2005) found that the phenotype was associated with an in-frame deletion of 3 nucleotides in exon 2 of the MCT8 gene, 683delTCT, resulting in deletion of phenylalanine-230 (delF230). </p><p>By in vitro cellular studies, Jansen et al. (2008) found that the delF230 mutant was mostly retained in the cytoplasm and had less than 5% activity of wildtype. Patients with the deletion did not acquire independent walking or speech development, consistent with a severe loss of transporter activity. </p>
|
|
</span>
|
|
</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>.0011 ALLAN-HERNDON-DUDLEY SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
SLC16A2, 1-BP DEL, 1834C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs113994166,
|
|
|
|
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|
|
ClinVar: RCV000012408
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large Brazilian family with Allan-Herndon-Dudley syndrome (AHDS; 300523), originally reported by Passos-Bueno et al. (1993), Maranduba et al. (2006) identified a 1-bp deletion (1834delC) in the SLC16A2 gene. The deletion is predicted to result in a frameshift and abnormal C terminus with an additional 64 amino acids. Serum T3 and free T3 levels were elevated in all affected males, whereas normal levels were found among obligate female carriers. In vitro functional expression studies suggested that the mutant protein results in decreased cellular T3 uptake and intracellular T3 metabolism. Maranduba et al. (2006) suggested that the severe neurologic defects in these patients result from deficiency of intracellular T3 and altered T3 metabolism in central neurons. In addition, the severe muscle hypoplasia observed may also result from high serum T3. </p>
|
|
</span>
|
|
</div>
|
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<div>
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<br />
|
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Allan, W., Herndon, C. N., Dudley, F. C.
|
|
<strong>Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly.</strong>
|
|
Am. J. Ment. Defic. 48: 325-334, 1944.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bialer, M. G., Lawrence, L., Stevenson, R. E., Silverberg, G., Williams, M. K., Arena, J. F., Lubs, H. A., Schwartz, C. E.
|
|
<strong>Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family.</strong>
|
|
Am. J. Med. Genet. 43: 491-497, 1992.
|
|
|
|
|
|
[PubMed: 1605231]
|
|
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|
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[Full Text: https://doi.org/10.1002/ajmg.1320430173]
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Debrand, E., Heard, E., Avner, P.
|
|
<strong>Cloning and localization of the murine Xpct gene: evidence for complex rearrangements during the evolution of the region around the Xist gene.</strong>
|
|
Genomics 48: 296-303, 1998.
|
|
|
|
|
|
[PubMed: 9545634]
|
|
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|
|
[Full Text: https://doi.org/10.1006/geno.1997.5173]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Dumitrescu, A. M., Liao, X.-H., Best, T. B., Brockmann, K., Refetoff, S.
|
|
<strong>A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.</strong>
|
|
Am. J. Hum. Genet. 74: 168-175, 2004. Note: Erratum: Am. J. Hum. Genet. 74: 598 only, 2004.
|
|
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|
|
[PubMed: 14661163]
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|
|
[Full Text: https://doi.org/10.1086/380999]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Dumitrescu, A. M., Liao, X.-H., Weiss, R. E., Millen, K., Refetoff, S.
|
|
<strong>Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (Mct) 8-deficient mice.</strong>
|
|
Endocrinology 147: 4036-4043, 2006.
|
|
|
|
|
|
[PubMed: 16709608]
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|
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[Full Text: https://doi.org/10.1210/en.2006-0390]
|
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</p>
|
|
</li>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Friesema, E. C. H., Ganguly, S., Abdalla, A., Manning Fox, J. E., Halestrap, A. P., Visser, T. J.
|
|
<strong>Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.</strong>
|
|
J. Biol. Chem. 278: 40128-40135, 2003.
|
|
|
|
|
|
[PubMed: 12871948]
|
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|
|
[Full Text: https://doi.org/10.1074/jbc.M300909200]
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</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Friesema, E. C. H., Grueters, A., Biebermann, H., Krude, H., von Moers, A., Reeser, M., Barrett, T. G., Mancilla, E. E., Svensson, J., Kester, M. H. A., Kuiper, G. G. J. M., Balkassmi, S., Uitterlinden, A. G., Koehrle, J., Rodien, P., Halestrap, A. P., Visser, T. J.
|
|
<strong>Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.</strong>
|
|
Lancet 364: 1435-1437, 2004.
|
|
|
|
|
|
[PubMed: 15488219]
|
|
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|
|
[Full Text: https://doi.org/10.1016/S0140-6736(04)17226-7]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Friesema, E., Grueters, A., Halestrap, A., Reeser, M., Visser, T.
|
|
<strong>Mutations in a thyroid hormone transporter in patients with severe psychomotor retardation and high serum T3 levels. (Abstract)</strong>
|
|
Thyroid 13: 672 only, 2003.
|
|
|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Frints, S. G. M., Lenzner, S., Bauters, M., Jensen, L. R., Van Esch, H., des Portes, V., Moog, U., Macville, M. V. E., van Roozendaal, K., Schrander-Stumpel, C. T. R. M., Tzschach, A., Marynen, P., and 12 others.
|
|
<strong>MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.</strong>
|
|
Europ. J. Hum. Genet. 16: 1029-1037, 2008.
|
|
|
|
|
|
[PubMed: 18398436]
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|
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|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2008.66]
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|
</p>
|
|
</li>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Jansen, J., Friesema, E. C., Kester, M. H., Schwartz, C. E., Visser, T. J.
|
|
<strong>Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.</strong>
|
|
Endocrinology 149: 2184-2190, 2008.
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|
|
|
|
|
[PubMed: 18187543]
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|
|
|
|
|
[Full Text: https://doi.org/10.1210/en.2007-1475]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lafreniere, R. G., Carrel, L., Willard, H. F.
|
|
<strong>A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.</strong>
|
|
Hum. Molec. Genet. 3: 1133-1139, 1994.
|
|
|
|
|
|
[PubMed: 7981683]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/3.7.1133]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Maranduba, C. M. C., Friesema, E. C. H., Kok, F., Kester, M. H. A., Jansen, J., Sertie, A. L., Passos-Bueno, M. R., Visser, T. J.
|
|
<strong>Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. (Letter)</strong>
|
|
J. Med. Genet. 43: 457-460, 2006.
|
|
|
|
|
|
[PubMed: 15980113]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.2005.035840]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Passos-Bueno, M. R., Byth, B. C., Rosenberg, S., Takata, R. I., Bakker, E., Beggs, A. H., Pavanello, R. C., Vainzof, M., Davies, K. E., Zatz, M.
|
|
<strong>Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?</strong>
|
|
Am. J. Med. Genet. 46: 172-175, 1993.
|
|
|
|
|
|
[PubMed: 8484404]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320460214]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roberts, L. M., Woodford, K., Zhou, M., Black, D. S., Haggerty, J. E., Tate, E. H., Grindstaff, K. K., Mengesha, W., Raman, C., Zerangue, N.
|
|
<strong>Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier.</strong>
|
|
Endocrinology 149: 6251-6261, 2008.
|
|
|
|
|
|
[PubMed: 18687783]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/en.2008-0378]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Schwartz, C. E., May, M. M., Carpenter, N. J., Rogers, R. C., Martin, J., Bialer, M. G., Ward, J., Sanabria, J., Marsa, S., Lewis, J. A., Echeverri, R., Lubs, H. A., Voeller, K., Simensen, R. J., Stevenson, R. E.
|
|
<strong>Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.</strong>
|
|
Am. J. Hum. Genet. 77: 41-53, 2005.
|
|
|
|
|
|
[PubMed: 15889350]
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|
|
[Full Text: https://doi.org/10.1086/431313]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Trajkovic, M., Visser, T. J., Mittag, J., Horn, S., Lukas, J., Darras, V. M., Raivich, G., Bauer, K., Heuer, H.
|
|
<strong>Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8.</strong>
|
|
J. Clin. Invest. 117: 627-635, 2007.
|
|
|
|
|
|
[PubMed: 17318265]
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|
|
[Full Text: https://doi.org/10.1172/JCI28253]
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Visser, W. E., Swagemakers, S. M. A., Ozgur, Z., Schot, R., Verheijen, F. W., van Ijcken, W. F. J., van der Spek, P. J., Visser, T. J.
|
|
<strong>Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.</strong>
|
|
Hum. Molec. Genet. 19: 4189-4200, 2010.
|
|
|
|
|
|
[PubMed: 20705735]
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|
|
[Full Text: https://doi.org/10.1093/hmg/ddq337]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Wirth, E. K., Roth, S., Blechschmidt, C., Holter, S. M., Becker, L., Racz, I., Zimmer, A., Klopstock, T., Gailus-Durner, V., Fuchs, H., Wurst, W., Naumann, T., Brauer, A., Hrabe de Angelis, M., Kohrle, J., Gruters, A., Schweizer, U.
|
|
<strong>Neuronal 3-prime,3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.</strong>
|
|
J. Neurosci. 29: 9439-9449, 2009.
|
|
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|
|
[PubMed: 19641107]
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|
|
[Full Text: https://doi.org/10.1523/JNEUROSCI.6055-08.2009]
|
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|
</p>
|
|
</li>
|
|
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|
</ol>
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
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George E. Tiller - updated : 06/23/2017<br>Matthew B. Gross - updated : 4/30/2010<br>Patricia A. Hartz - updated : 4/29/2010<br>Cassandra L. Kniffin - updated : 4/15/2010<br>Cassandra L. Kniffin - updated : 1/8/2009<br>Paul J. Converse - updated : 5/3/2007<br>Cassandra L. Kniffin - updated : 6/13/2006<br>Victor A. McKusick - updated : 6/17/2005<br>Cassandra L. Kniffin - updated : 2/14/2005<br>Victor A. McKusick - updated : 1/23/2004<br>Victor A. McKusick - updated : 1/6/2004
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Victor A. McKusick : 10/22/1997
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alopez : 06/23/2017<br>carol : 06/15/2017<br>carol : 04/20/2011<br>mgross : 4/30/2010<br>mgross : 4/29/2010<br>wwang : 4/28/2010<br>ckniffin : 4/15/2010<br>joanna : 4/12/2010<br>wwang : 1/20/2009<br>ckniffin : 1/8/2009<br>mgross : 5/17/2007<br>terry : 5/3/2007<br>wwang : 6/16/2006<br>ckniffin : 6/13/2006<br>alopez : 6/22/2005<br>terry : 6/17/2005<br>ckniffin : 2/14/2005<br>tkritzer : 3/26/2004<br>ckniffin : 3/23/2004<br>joanna : 3/17/2004<br>tkritzer : 2/5/2004<br>tkritzer : 2/5/2004<br>terry : 1/23/2004<br>carol : 1/7/2004<br>tkritzer : 1/7/2004<br>terry : 1/6/2004<br>joanna : 1/6/2004<br>mgross : 2/6/2003<br>joanna : 10/22/1997
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