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Entry
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- *300451 - ECTODYSPLASIN A; EDA
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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">*300451</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#evolution">Evolution</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#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/300451">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000158813;t=ENST00000374552" 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=1896" 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=300451" 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=ENSG00000158813;t=ENST00000374552" 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_001005609,NM_001005610,NM_001005612,NM_001005613,NM_001399,XM_006724630,XM_011530885,XM_017029336,XM_017029337,XR_001755660" 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_001399" 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=300451" 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=02347&isoform_id=02347_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/EDA" 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/1524407,1524409,2314823,3639041,3639050,3779246,3779248,3779250,3779252,3779254,3779256,3869270,4503449,6166135,54112101,54112109,116496617,119625765,119625766,119625767,219518115,219841946,300796531,300796551,578838319,768037473,972853730,1034673729,1034673732,2462628594,2462628596,2462628599,2462628601" 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/Q92838" 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=1896" 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=ENSG00000158813;t=ENST00000374552" 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=EDA" 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=EDA" 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+1896" 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/EDA" 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:1896" 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/1896" 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=ENST00000374552.9&hgg_start=69616113&hgg_end=70039472&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:3157" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300451[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=300451[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/EDA/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/ENSG00000158813" 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=EDA" 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=EDA" 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=EDA" 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/EDA" 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=EDA&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/PA27601" 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:3157" 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/FBgn0033483.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:1195272" 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/EDA#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:1195272" 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/1896/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://omia.org/OMIA000543/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=1896" 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-050107-6" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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|
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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:1896" 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=EDA&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> 239007005, 7731005<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
300451
|
|
</span>
|
|
</span>
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</div>
|
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</div>
|
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<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
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|
ECTODYSPLASIN A; EDA
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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 />
|
|
</div>
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<div>
|
|
<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">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
ECTODYSPLASIN<br />
|
|
EDA1 GENE<br />
|
|
ED1 GENE; ED1
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
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<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
ECTODYSPLASIN A1 ISOFORM, INCLUDED
|
|
</span>
|
|
</div>
|
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|
<div>
|
|
<span class="h4 mim-font">
|
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|
|
EDA-A1, INCLUDED<br />
|
|
ECTODYSPLASIN A2 ISOFORM, INCLUDED<br />
|
|
EDA-A2, INCLUDED
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=EDA" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EDA</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/X/387?start=-3&limit=10&highlight=387">Xq13.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:69616113-70039472&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:69,616,113-70,039,472</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=305100,313500" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/387?start=-3&limit=10&highlight=387">
|
|
Xq13.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Ectodermal dysplasia 1, hypohidrotic, X-linked
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/305100"> 305100 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<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>
|
|
</td>
|
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|
|
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</tr>
|
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>To identify the gene for human X-linked anhidrotic ectodermal dysplasia (EDA) (XHED; <a href="/entry/305100">305100</a>), <a href="#28" class="mim-tip-reference" title="Srivastava, A. K., Montonen, O., Saarialho-Kere, U., Chen, E., Baybayan, P., Pispa, J., Limon, J., Schlessinger, D., Kere, J. <strong>Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed.</strong> Am. J. Hum. Genet. 58: 126-132, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8554048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8554048</a>]" pmid="8554048">Srivastava et al. (1996)</a> fine mapped the translocation breakpoint in an EDA patient with the translocation t(X;1)(q13.1;p36.3). They determined that the EDA candidate region contains 5 groups of rare-cutter restriction sites that define CpG islands. The third of these CpG islands mapped within less than 1 kb of the translocation breakpoint, as indicated by a genomic rearrangement, and approximately 100 kb centromeric from another previously mapped translocation breakpoint. Northern blot analysis with a probe from this CpG island detected an mRNA of approximately 6 kb in several fetal tissues tested. <a href="#28" class="mim-tip-reference" title="Srivastava, A. K., Montonen, O., Saarialho-Kere, U., Chen, E., Baybayan, P., Pispa, J., Limon, J., Schlessinger, D., Kere, J. <strong>Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed.</strong> Am. J. Hum. Genet. 58: 126-132, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8554048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8554048</a>]" pmid="8554048">Srivastava et al. (1996)</a> concluded that the CpG island just proximal to the translocation breakpoint of their patient lies at the 5-prime end of a candidate gene for EDA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8554048" 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="Kere, J., Srivastava, A. K., Montonen, O., Zonana, J., Thomas, N., Ferguson, B, Munoz, F., Morgan, D., Clarke, A., Baybayan, P., Chen, E. Y., Ezer, S., Saarialho-Kere, U., de la Chapelle, A., Schlessinger, D. <strong>X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.</strong> Nature Genet. 13: 409-416, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8696334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8696334</a>] [<a href="https://doi.org/10.1038/ng0895-409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8696334">Kere et al. (1996)</a> reported the positional cloning of the EDA1 gene. From an adult sweat gland cDNA library, they identified a single cDNA representing a full-length transcript composed of 2 exons. The putative gene product was a 135-residue protein (isoform I) predicted to contain a single transmembrane domain. The gene was expressed in keratinocytes, hair follicles, sweat glands, and in other adult and fetal tissues. The authors suggested that the predicted EDA protein may belong to a novel class with a role in epithelial-mesenchymal signaling. In several patients with EDA, <a href="#18" class="mim-tip-reference" title="Kere, J., Srivastava, A. K., Montonen, O., Zonana, J., Thomas, N., Ferguson, B, Munoz, F., Morgan, D., Clarke, A., Baybayan, P., Chen, E. Y., Ezer, S., Saarialho-Kere, U., de la Chapelle, A., Schlessinger, D. <strong>X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.</strong> Nature Genet. 13: 409-416, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8696334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8696334</a>] [<a href="https://doi.org/10.1038/ng0895-409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8696334">Kere et al. (1996)</a> identified deletions and mutations in the EDA1 gene (see MOLECULAR GENETICS). <a href="#18" class="mim-tip-reference" title="Kere, J., Srivastava, A. K., Montonen, O., Zonana, J., Thomas, N., Ferguson, B, Munoz, F., Morgan, D., Clarke, A., Baybayan, P., Chen, E. Y., Ezer, S., Saarialho-Kere, U., de la Chapelle, A., Schlessinger, D. <strong>X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.</strong> Nature Genet. 13: 409-416, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8696334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8696334</a>] [<a href="https://doi.org/10.1038/ng0895-409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8696334">Kere et al. (1996)</a> and <a href="#10" class="mim-tip-reference" title="Ferguson, B. M., Brockdorff, N., Formstone, E., Ngyuen, T., Kronmiller, J. E., Zonana, J. <strong>Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain.</strong> Hum. Molec. Genet. 6: 1589-1594, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9285798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9285798</a>] [<a href="https://doi.org/10.1093/hmg/6.9.1589" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9285798">Ferguson et al. (1997)</a> speculated that, since mutations in exon 1 could be identified in only 10 to 15% of families with EDA, it was likely that additional homologous exons existed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8696334+9285798" 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>Cloning of the murine homolog by <a href="#29" class="mim-tip-reference" title="Srivastava, A. K., Pispa, J., Hartung, A. J., Du, Y., Ezer, S., Jenks, T., Shimada, T., Pekkanen, M., Mikkola, M. L., Ko, M. S. H., Thesleff, I., Kere, J., Schlessinger, D. <strong>The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains.</strong> Proc. Nat. Acad. Sci. 94: 13069-13074, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9371801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9371801</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9371801[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/10.1073/pnas.94.24.13069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9371801">Srivastava et al. (1997)</a> and <a href="#10" class="mim-tip-reference" title="Ferguson, B. M., Brockdorff, N., Formstone, E., Ngyuen, T., Kronmiller, J. E., Zonana, J. <strong>Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain.</strong> Hum. Molec. Genet. 6: 1589-1594, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9285798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9285798</a>] [<a href="https://doi.org/10.1093/hmg/6.9.1589" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9285798">Ferguson et al. (1997)</a> (see below) allowed the identification of a second putative isoform of the EDA1 protein (isoform II) in humans. This EDA1 cDNA was predicted to encode a 391-residue protein, of which 256 amino acids were encoded by the 'new' exons. The putative protein is 94% identical to the mouse homolog and includes a collagen-like domain with 19 repeats of a Gly-X-Y motif in the presumptive extracellular domain (<a href="#22" class="mim-tip-reference" title="Monreal, A. W., Zonana, J., Ferguson, B. <strong>Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.</strong> Am. J. Hum. Genet. 63: 380-389, 1998. Note: Erratum: Am. J. Hum. Genet. 63: 1253-1255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683615</a>] [<a href="https://doi.org/10.1086/301984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683615">Monreal et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9285798+9683615+9371801" 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="#29" class="mim-tip-reference" title="Srivastava, A. K., Pispa, J., Hartung, A. J., Du, Y., Ezer, S., Jenks, T., Shimada, T., Pekkanen, M., Mikkola, M. L., Ko, M. S. H., Thesleff, I., Kere, J., Schlessinger, D. <strong>The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains.</strong> Proc. Nat. Acad. Sci. 94: 13069-13074, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9371801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9371801</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9371801[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/10.1073/pnas.94.24.13069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9371801">Srivastava et al. (1997)</a> cloned the mouse 'Tabby' (Ta) gene and identified 3 different transcript isoforms encoding proteins of 391, 177, and 220 amino acids. All shared the same exon 1, which showed 88% homology with the first 132 amino acids of human EDA. The predicted molecular mass of the 392-amino acid Ta form was 41.6 kD. Reciprocal comparative analysis of EDA and Ta sequences led to extension of the known span of the human gene. <a href="#29" class="mim-tip-reference" title="Srivastava, A. K., Pispa, J., Hartung, A. J., Du, Y., Ezer, S., Jenks, T., Shimada, T., Pekkanen, M., Mikkola, M. L., Ko, M. S. H., Thesleff, I., Kere, J., Schlessinger, D. <strong>The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains.</strong> Proc. Nat. Acad. Sci. 94: 13069-13074, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9371801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9371801</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9371801[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/10.1073/pnas.94.24.13069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9371801">Srivastava et al. (1997)</a> confirmed that the Ta gene was mutated in 2 independent Tabby mouse strains. They demonstrated that the gene was expressed in developing teeth and epidermis and found no expression in corresponding tissues from mutant Tabby mice. The authors suggested that the isoforms of ectodysplasin-A may correlate with differential roles during embryonic development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9371801" 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="#10" class="mim-tip-reference" title="Ferguson, B. M., Brockdorff, N., Formstone, E., Ngyuen, T., Kronmiller, J. E., Zonana, J. <strong>Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain.</strong> Hum. Molec. Genet. 6: 1589-1594, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9285798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9285798</a>] [<a href="https://doi.org/10.1093/hmg/6.9.1589" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9285798">Ferguson et al. (1997)</a> identified a candidate cDNA for the mouse Ta gene, which, based on phenotype and syntenic mapping, was postulated to represent the murine equivalent of EDA. They found that the murine cDNA also encoded an additional 246 amino acids, which contained a short collagenous domain (Gly-X-Y)19. This predicted structure was similar to a number of membrane-associated proteins with either single or multiple collagenous domains in the extracellular C-terminal regions. Northern blot analysis showed that the gene was expressed at increasing levels during embryogenesis (11-17 days p.c.), the period when affected structures develop. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9285798" 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="#1" class="mim-tip-reference" title="Bayes, M., Hartung, A. J., Ezer, S., Pispa, J., Thesleff, I., Srivastava, A. K., Kere, J. <strong>The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.</strong> Hum. Molec. Genet. 7: 1661-1669, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9736768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9736768</a>] [<a href="https://doi.org/10.1093/hmg/7.11.1661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9736768">Bayes et al. (1998)</a> constructed a complete splicing map of the EDA gene and characterized the longest and what probably represents the full-length EDA transcript, EDA-A, which encodes the 391-amino acid transmembrane protein. They also detected 4 new transcripts that coded for truncated proteins lacking the collagenous domain. The splice variants showed different expression patterns in 8 tissues analyzed, suggesting a regulatory mechanism for gene expression. <a href="#1" class="mim-tip-reference" title="Bayes, M., Hartung, A. J., Ezer, S., Pispa, J., Thesleff, I., Srivastava, A. K., Kere, J. <strong>The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.</strong> Hum. Molec. Genet. 7: 1661-1669, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9736768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9736768</a>] [<a href="https://doi.org/10.1093/hmg/7.11.1661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9736768">Bayes et al. (1998)</a> found that the full-length form of the protein is transported to the cell membrane and induces rounding of the cells, properties also associated with the 135-amino acid isoform. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9736768" 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="#22" class="mim-tip-reference" title="Monreal, A. W., Zonana, J., Ferguson, B. <strong>Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.</strong> Am. J. Hum. Genet. 63: 380-389, 1998. Note: Erratum: Am. J. Hum. Genet. 63: 1253-1255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683615</a>] [<a href="https://doi.org/10.1086/301984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683615">Monreal et al. (1998)</a> and <a href="#1" class="mim-tip-reference" title="Bayes, M., Hartung, A. J., Ezer, S., Pispa, J., Thesleff, I., Srivastava, A. K., Kere, J. <strong>The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.</strong> Hum. Molec. Genet. 7: 1661-1669, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9736768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9736768</a>] [<a href="https://doi.org/10.1093/hmg/7.11.1661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9736768">Bayes et al. (1998)</a> established the genomic structure of the EDA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9683615+9736768" 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="#9" class="mim-tip-reference" title="Ezer, S., Bayes, M., Elomaa, O., Schlessinger, D., Kere, J. <strong>Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells.</strong> Hum. Molec. Genet. 8: 2079-2086, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484778</a>] [<a href="https://doi.org/10.1093/hmg/8.11.2079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10484778">Ezer et al. (1999)</a> showed that the sequence of the longest isoform encoded by the EDA gene includes an interrupted collagenous domain of 19 Gly-X-Y repeats and a motif conserved in the tumor necrosis factor (TNF)-related ligand family (see <a href="/entry/604052">604052</a>). They found that ectodysplasin is a trimeric type II membrane protein that colocalizes with cytoskeletal structures at the lateral and apical surfaces of cells. These findings suggested that ectodysplasin is a novel member of the TNF-related ligand family involved in the early epithelial-mesenchymal interaction that regulates ectodermal appendage formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484778" 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="#35" class="mim-tip-reference" title="Yan, M., Wang, L.-C., Hymowitz, S. G., Schilbach, S., Lee, J., Goddard, A., de Vos, A. M., Gao, W.-Q., Dixit, V. M. <strong>Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors.</strong> Science 290: 523-527, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11039935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11039935</a>] [<a href="https://doi.org/10.1126/science.290.5491.523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11039935">Yan et al. (2000)</a> found that the EDA-A1 isoform encodes a 391-residue protein with a domain similar to TNF at the C terminus. EDA-A1 specifically binds 'downless,' also known as EDAR (<a href="/entry/604095">604095</a>). An alternate transcript of EDA encodes a protein that is identical to EDA-A1 except for the deletion of 2 amino acids, glu308 and val309. This isoform is designated EDA-A2, and <a href="#35" class="mim-tip-reference" title="Yan, M., Wang, L.-C., Hymowitz, S. G., Schilbach, S., Lee, J., Goddard, A., de Vos, A. M., Gao, W.-Q., Dixit, V. M. <strong>Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors.</strong> Science 290: 523-527, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11039935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11039935</a>] [<a href="https://doi.org/10.1126/science.290.5491.523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11039935">Yan et al. (2000)</a> found that it exclusively binds to XEDAR (<a href="/entry/300276">300276</a>), an X-linked ectodysplasin receptor. EDA-A2 expression was concentrated in the central core of developing hair follicles in mice, whereas EDA-A1 expression was circumferential. Expression of EDA-A1 bound to EDAR was found at embryonic day 14 in the basal cells of developing epidermis, with elevated focal expression in placodes. Expression of EDA-A2 bound to XEDAR was barely discernible at this stage; however, by embryonic days 16 and 17, both receptors were expressed in large amounts in the maturing follicles. By postnatal day 1, the pattern of expression was confined to the hair follicles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11039935" 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="Chen, Y., Molloy, S. S., Thomas, L., Gambee, J., Bachinger, H. P., Ferguson, B., Zonana, J., Thomas, G., Morris, N. P. <strong>Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.</strong> Proc. Nat. Acad. Sci. 98: 7218-7223, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11416205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11416205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11416205[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/10.1073/pnas.131076098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11416205">Chen et al. (2001)</a> demonstrated that XHED is one of the few examples of a heritable disorder associated with failure of furin (<a href="/entry/136950">136950</a>) processing sites. The stalk region in the C terminus of the EDA molecule contains the sequence -arg-val-arg-arg156-asn-lys-arg159-, representing overlapping consensus cleavage sites (arg-X-lys/arg-arg) for the proprotein convertase furin. Missense mutations in 4 of the 5 basic residues within this sequence account for approximately 20% of all known XHED cases, with mutations occurring most frequently at arg156, which is shared by the 2 consensus furin sites. See <a href="#0005">300451.0005</a>, <a href="#0006">300451.0006</a>, and <a href="#0007">300451.0007</a>. The analyses of <a href="#3" class="mim-tip-reference" title="Chen, Y., Molloy, S. S., Thomas, L., Gambee, J., Bachinger, H. P., Ferguson, B., Zonana, J., Thomas, G., Morris, N. P. <strong>Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.</strong> Proc. Nat. Acad. Sci. 98: 7218-7223, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11416205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11416205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11416205[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/10.1073/pnas.131076098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11416205">Chen et al. (2001)</a> suggested that cleavage at the furin site(s) in the stalk region is required for the ectodysplasin-mediated cell-to-cell signaling that regulates the morphogenesis of ectodermal appendages. They showed that the 50-kD EDA parent molecule is cleaved at -arg156-asn-lys-arg159- to release the soluble C-terminal fragment containing the TNF core domain. This cleavage appeared to be catalyzed by furin, as release of the TNF domain was blocked either by expression of the furin inhibitor or by expression of EDA in furin-deficient cells. Thus, mutation of a functional furin cleavage site in the developmental signaling molecule is a basis for XHED and raises the possibility that furin cleavage may regulate the ability of EDA to act as a juxtacrine or paracrine factor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11416205" 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="#8" class="mim-tip-reference" title="Elomaa, O., Pulkkinen, K., Hannelius, U., Mikkola, M., Saarialho-Kere, U., Kere, J. <strong>Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.</strong> Hum. Molec. Genet. 10: 953-962, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11309369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11309369</a>] [<a href="https://doi.org/10.1093/hmg/10.9.953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11309369">Elomaa et al. (2001)</a> confirmed the findings of <a href="#3" class="mim-tip-reference" title="Chen, Y., Molloy, S. S., Thomas, L., Gambee, J., Bachinger, H. P., Ferguson, B., Zonana, J., Thomas, G., Morris, N. P. <strong>Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.</strong> Proc. Nat. Acad. Sci. 98: 7218-7223, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11416205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11416205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11416205[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/10.1073/pnas.131076098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11416205">Chen et al. (2001)</a>. They further demonstrated that EDAR coprecipitated with ectodysplasin, confirming that they form a ligand-receptor pair. In situ hybridization and immunostaining studies showed that ectodysplasin and EDAR are expressed in adjacent or partially overlapping layers in the developing human skin. The authors concluded that as a soluble ligand ectodysplasin can interact with EDAR and mediate signals needed for the development of ectodermal appendages. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11416205+11309369" 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>To elucidate the function of ED1 in pathways regulating ectodermal development, <a href="#7" class="mim-tip-reference" title="Durmowicz, M. C., Cui, C.-Y., Schlessinger, D. <strong>The EDA gene is a target of, but does not regulate Wnt signaling.</strong> Gene 285: 203-211, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12039047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12039047</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)00407-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12039047">Durmowicz et al. (2002)</a> analyzed promoter elements of the ED1 gene, which they called EDA. Using electrophoretic mobility shift assays and cotransfection studies, <a href="#7" class="mim-tip-reference" title="Durmowicz, M. C., Cui, C.-Y., Schlessinger, D. <strong>The EDA gene is a target of, but does not regulate Wnt signaling.</strong> Gene 285: 203-211, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12039047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12039047</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)00407-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12039047">Durmowicz et al. (2002)</a> demonstrated that lymphoid enhancer-binding factor-1 (LEF1; <a href="/entry/153245">153245</a>) specifically binds the ED1 promoter, and that LEF1 and beta-catenin (<a href="/entry/116806">116806</a>) are necessary for full activation of ED1 gene expression. Also, inhibition of glycogen synthase kinase-3B (GSK3B; <a href="/entry/605004">605004</a>), which stabilizes excess beta-catenin, stimulates transcription from the ED1 promoter. <a href="#7" class="mim-tip-reference" title="Durmowicz, M. C., Cui, C.-Y., Schlessinger, D. <strong>The EDA gene is a target of, but does not regulate Wnt signaling.</strong> Gene 285: 203-211, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12039047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12039047</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)00407-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12039047">Durmowicz et al. (2002)</a> concluded that the ED1 gene is a target of Wnt signaling. Using transfection experiments, they found no evidence for feedback signaling of ED1 on Lef1 and beta-catenin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12039047" 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>EDA-A1 and EDA-A2, the most common and longest EDA splice isoforms, activate NF-kappa-B-promoted transcription by binding to distinct receptors: EDAR and XEDAR. The extent to which any particular isoform is sufficient for the formation of hair, sweat glands, or teeth had been unclear. <a href="#27" class="mim-tip-reference" title="Srivastava, A. K., Durmowicz, M. C., Hartung, A. J., Hudson, J., Ouzts, L. V., Donovan, D. M., Cui, C.-Y., Schlessinger, D. <strong>Ectodysplasin-A1 is sufficient to rescue both hair growth and sweat glands in Tabby mice.</strong> Hum. Molec. Genet. 10: 2973-2981, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11751679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11751679</a>] [<a href="https://doi.org/10.1093/hmg/10.26.2973" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11751679">Srivastava et al. (2001)</a> reported that transgenic expression of the mouse EDA-A1 isoform in Tabby males rescued development of several skin appendages. The transgenic Tabby mice showed almost complete restoration of hair growth, dermal ridges, sweat glands, and molars. The number of hair follicles in the transgenic mice is the same as in wildtype, although the development of follicles and associated glands varies from indistinguishable from wildtype to smaller and/or only partially formed. These results suggested that the other EDA isoforms may not be absolutely required for skin appendage formation but, consistent with distinctive temporal and spatial expression of the EDA-A2 isoform, are likely required for appropriate timing and completeness of development. These data provided direct physiologic evidence that EDA-A1 is a key regulator of hair follicle and sweat gland initiation; its soluble ligand form could aid in deriving therapeutic reagents for conditions affecting hair and sweat gland formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11751679" 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>To analyze EDA pathways, <a href="#5" class="mim-tip-reference" title="Cui, C.-Y., Durmowicz, M., Tanaka, T. S., Hartung, A. J., Tezuka, T., Hashimoto, K., Ko, M. S. H., Srivastava, A. K., Schlessinger, D. <strong>EDA targets revealed by skin gene expression profiles of wild-type, Tabby and Tabby EDA-A1 transgenic mice.</strong> Hum. Molec. Genet. 11: 1763-1773, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12095918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12095918</a>] [<a href="https://doi.org/10.1093/hmg/11.15.1763" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12095918">Cui et al. (2002)</a> used expression profiling on 15,000-gene mouse cDNA microarrays, comparing adult mouse skin from wildtype, EDA-defective (Tabby) mice, and Tabby mice supplemented with the EDA-A1 isoform, which is sufficient to rescue multiple Tabby phenotypes. Given the sensitivity of the microarray system, 8,500 genes (60%) were estimated to be expressed, including transcription factors and growth-regulatory genes that had not previously been identified in skin; however, only 24 (0.16%), one-third of them novel, showed significant differences between wildtype and Tabby. An additional 8 genes not included in the 15,000-gene set were shown to have expression differences by real-time RT-PCR. Sixteen of 32 affected genes were restored significantly toward wildtype levels in EDA-A1 transgenic Tabby mice. Significant upregulation in Tabby skin was observed for several dermal matrix genes, including Col1a1 (<a href="/entry/120150">120150</a>), Col1a2 (<a href="/entry/120160">120160</a>), Col3a1 (<a href="/entry/120180">120180</a>), and Sparc (<a href="/entry/182120">182120</a>). In contrast, downregulation occurred for the NEMO (<a href="/entry/300248">300248</a>)/NF-kappa-B (<a href="/entry/164011">164011</a>) pathway, already implicated in skin appendage formation, and even more markedly for a second pathway, JNK (<a href="/entry/601158">601158</a>)/c-jun (<a href="/entry/165160">165160</a>)/c-fos (<a href="/entry/164810">164810</a>) and their target genes, that had not previously been clearly associated with skin development. The authors concluded that EDA has a regulatory role in both the NF-kappa-B and JNK pathways. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12095918" 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="#4" class="mim-tip-reference" title="Cui, C.-Y., Durmowicz, M., Ottolenghi, C., Hashimoto, T., Griggs, B., Srivastava, A. K., Schlessinger, D. <strong>Inducible mEDA-A1 transgene mediates sebaceous gland hyperplasia and differential formation of two types of mouse hair follicles.</strong> Hum. Molec. Genet. 12: 2931-2940, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14506134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14506134</a>] [<a href="https://doi.org/10.1093/hmg/ddg325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14506134">Cui et al. (2003)</a> conditionally expressed ED1 isoforms as tetracycline-regulated transgenes in Tabby and wildtype mice. Expression of only the EDA-A1 transgene had determinative effects on sweat glands and hair follicles, as well as trophic effects on sebaceous and Meibomian glands. The phenotypic effects of EDA-A1 on sebaceous glands, but not on hair follicles, were reversed when the gene was repressed in adult animals. <a href="#4" class="mim-tip-reference" title="Cui, C.-Y., Durmowicz, M., Ottolenghi, C., Hashimoto, T., Griggs, B., Srivastava, A. K., Schlessinger, D. <strong>Inducible mEDA-A1 transgene mediates sebaceous gland hyperplasia and differential formation of two types of mouse hair follicles.</strong> Hum. Molec. Genet. 12: 2931-2940, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14506134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14506134</a>] [<a href="https://doi.org/10.1093/hmg/ddg325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14506134">Cui et al. (2003)</a> proposed both initiating and trophic isoform-specific effects of the EDA gene, and suggested a possible balance of isoform interactions in skin appendage formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14506134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The EDA1 protein, acting through EDAR, is essential for proper formation of skin appendages. EDA1 must be proteolytically processed to a soluble form to be active. <a href="#13" class="mim-tip-reference" title="Gaide, O., Schneider, P. <strong>Permanent correction of an inherited ectodermal dysplasia with recombinant EDA.</strong> Nature Med. 9: 614-618, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12692542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12692542</a>] [<a href="https://doi.org/10.1038/nm861" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12692542">Gaide and Schneider (2003)</a> showed that treatment of pregnant Tabby mice with a recombinant form of EDA1, engineered to cross the placental barrier, permanently rescued the Tabby phenotype in the offspring. Notably, sweat glands can also be induced by EDA1 after birth. This was said to be the first example of a developmental genetic defect that can be permanently corrected by short-term treatment with the recombinant protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12692542" 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 comparative transcription profiling of embryonic skin during hair follicle development in wildtype and Tabby mice, <a href="#6" class="mim-tip-reference" title="Cui, C.-Y., Hashimoto, T., Grivennikov, S. I., Piao, Y., Nedospasov, S. A., Schlessinger, D. <strong>Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation.</strong> Proc. Nat. Acad. Sci. 103: 9142-9147, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16738056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16738056</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16738056[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/10.1073/pnas.0509678103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16738056">Cui et al. (2006)</a> found Eda regulated proteins involved in 4 signaling pathways. These included Shh (<a href="/entry/600725">600725</a>) in the hedgehog signaling pathway, Dkk4, (<a href="/entry/605417">605417</a>) in the Wnt signaling pathway, Sostdc1 (<a href="/entry/609675">609675</a>) in the BMP pathway, and Ltb (<a href="/entry/600978">600978</a>) in the NFKB (see <a href="/entry/164011">164011</a>) signaling pathway. Ltb was enriched in developing hair follicles of wildtype but not Tabby mice. In mice lacking Ltb, all 3 types of mouse hairs were formed, but they were structurally abnormal. <a href="#6" class="mim-tip-reference" title="Cui, C.-Y., Hashimoto, T., Grivennikov, S. I., Piao, Y., Nedospasov, S. A., Schlessinger, D. <strong>Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation.</strong> Proc. Nat. Acad. Sci. 103: 9142-9147, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16738056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16738056</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16738056[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/10.1073/pnas.0509678103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16738056">Cui et al. (2006)</a> concluded that Ltb regulates the form of hair in developing hair follicles and failure of Ltb activation can account for part of the Tabby phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16738056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Kunisada, M., Cui, C.-Y., Piao, Y., Ko, M. S. H., Schlessinger, D. <strong>Requirement for Shh and Fox family genes at different stages in sweat gland development.</strong> Hum. Molec. Genet. 18: 1769-1778, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19270025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19270025</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19270025[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/ddp089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19270025">Kunisada et al. (2009)</a> compared Tabby mice, in which sweat glands are not formed, with wildtype mice. Consistent with a controlled morphologic progression, expression profiling revealed stage-specific gene expression changes. Similar to the development of hair follicles, which are the other major skin appendage controlled by EDA, sweat gland induction and initial progression were accompanied by Eda-dependent upregulation of the Shh pathway. During the further development of sweat gland secretory portions, Foxa1 (<a href="/entry/602294">602294</a>) and Foxi1 (<a href="/entry/601093">601093</a>), which are not at all expressed in hair follicles, were progressively upregulated in wildtype but not in Tabby footpads. Upon completion of wildtype development, Shh declined to low levels seen in Tabby mice, but Fox family genes remained at elevated levels in mature sweat glands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19270025" 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="Harjunmaa, E., Kallonen, A., Voutilainen, M., Hamalainen, K., Mikkola, M. L., Jernvall, J. <strong>On the difficulty of increasing dental complexity.</strong> Nature 483: 324-327, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22398444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22398444</a>] [<a href="https://doi.org/10.1038/nature10876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22398444">Harjunmaa et al. (2012)</a> reported that mouse tooth complexity can be increased substantially by adjusting multiple signaling pathways simultaneously. <a href="#15" class="mim-tip-reference" title="Harjunmaa, E., Kallonen, A., Voutilainen, M., Hamalainen, K., Mikkola, M. L., Jernvall, J. <strong>On the difficulty of increasing dental complexity.</strong> Nature 483: 324-327, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22398444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22398444</a>] [<a href="https://doi.org/10.1038/nature10876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22398444">Harjunmaa et al. (2012)</a> cultured teeth in vitro and adjusted ectodysplasin (EDA), activin A (see <a href="/entry/147290">147290</a>), and SHH pathways, all of which are individually required for normal tooth development. The authors quantified tooth complexity using the number of cusps and a topographic measure of surface complexity, and found that whereas activation of EDA and activin A signaling and inhibition of SHH signaling individually cause subtle to moderate increases in complexity, cusp number is doubled when all 3 pathways are adjusted in unison. Furthermore, the increase in cusp number does not result from an increase in tooth size, but from an altered primary patterning phase of development. The combination of a lack of complex mutants, the paucity of natural variants with complex phenotypes, and their results of greatly increased dental complexity using multiple pathways, suggests that an increase may be inherently different from a decrease in phenotypic complexity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22398444" 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="#17" class="mim-tip-reference" title="Kangas, A. T., Evans, A. R., Thesleff, I., Jernvall, J. <strong>Nonindependence of mammalian dental characters.</strong> Nature 432: 211-214, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15538367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15538367</a>] [<a href="https://doi.org/10.1038/nature02927" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15538367">Kangas et al. (2004)</a> reported that developmentally most dental characters may be nonindependent. The authors investigated how 3 different levels of the cell signaling protein ectodysplasin (Eda) changed dental characters in mouse. They found that with increasing expression levels of Eda, the number of cusps increased, cusp shapes and positions changed, longitudinal crests formed, and number of teeth increased. The consistent modification of characters related to lateral placement of cusps could be traced to a small difference in the formation of an early signaling center at the onset of tooth crown formation. <a href="#17" class="mim-tip-reference" title="Kangas, A. T., Evans, A. R., Thesleff, I., Jernvall, J. <strong>Nonindependence of mammalian dental characters.</strong> Nature 432: 211-214, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15538367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15538367</a>] [<a href="https://doi.org/10.1038/nature02927" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15538367">Kangas et al. (2004)</a> concluded that most aspects of tooth shape have the developmental potential for correlated changes during evolution which may, if not taken into account, obscure phylogenetic history. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15538367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Hypohidrotic Ectodermal Dysplasia 1, X-Linked</em></strong></p><p>
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<a href="#18" class="mim-tip-reference" title="Kere, J., Srivastava, A. K., Montonen, O., Zonana, J., Thomas, N., Ferguson, B, Munoz, F., Morgan, D., Clarke, A., Baybayan, P., Chen, E. Y., Ezer, S., Saarialho-Kere, U., de la Chapelle, A., Schlessinger, D. <strong>X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.</strong> Nature Genet. 13: 409-416, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8696334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8696334</a>] [<a href="https://doi.org/10.1038/ng0895-409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8696334">Kere et al. (1996)</a> found that the EDA1 gene was disrupted in 6 hypohidrotic ectodermal dysplasia (XHED, ECTD1; <a href="/entry/305100">305100</a>) patients with X/autosome translocations or submicroscopic deletions; 9 patients had point mutations (see, e.g., <a href="#0001">300451.0001</a>). The authors noted that mutations were detected in only one-tenth of the patients studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8696334" 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 162 affected males and 21 females who were either obligate carriers or had manifestations of EDA, <a href="#11" class="mim-tip-reference" title="Ferguson, B. M., Thomas, N. S. T., Munoz, F., Morgan, D., Clarke, A., Zonana, J. <strong>Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.</strong> J. Med. Genet. 35: 112-115, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9507389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9507389</a>] [<a href="https://doi.org/10.1136/jmg.35.2.112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9507389">Ferguson et al. (1998)</a> screened the 2 known exons of the ED1 gene. Approximately 7% of patients, all males, had putative mutations identified within exon 1 (see, e.g., <a href="#0003">300451.0003</a>), but no variants were found within exon 2. No correlation between phenotype and genotype was evident between either affected subjects or subjects with or without detectable mutations. The authors concluded that the remainder of the patients were likely to have mutations in as yet unidentified exons of the EDA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9507389" 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 17 of 18 families with X-linked hypohidrotic ectodermal dysplasia, <a href="#22" class="mim-tip-reference" title="Monreal, A. W., Zonana, J., Ferguson, B. <strong>Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.</strong> Am. J. Hum. Genet. 63: 380-389, 1998. Note: Erratum: Am. J. Hum. Genet. 63: 1253-1255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683615</a>] [<a href="https://doi.org/10.1086/301984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683615">Monreal et al. (1998)</a> identified mutations in the EDA1 gene, including 12 missense, 1 nonsense, and 4 deletion mutations (see, e.g., <a href="#0005">300451.0005</a>-<a href="#0010">300451.0010</a> and <a href="#0023">300451.0023</a>). The results suggested that EDA1 isoform II plays a critical role in tooth, hair, and sweat gland morphogenesis, whereas the biologic significance of isoform I remained unclear. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683615" 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 12 of 15 EDA patients, <a href="#1" class="mim-tip-reference" title="Bayes, M., Hartung, A. J., Ezer, S., Pispa, J., Thesleff, I., Srivastava, A. K., Kere, J. <strong>The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.</strong> Hum. Molec. Genet. 7: 1661-1669, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9736768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9736768</a>] [<a href="https://doi.org/10.1093/hmg/7.11.1661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9736768">Bayes et al. (1998)</a> identified mutations in the EDA1 gene. Three mutations removed either 2 or 4 of the Gly-X-Y repeats without interrupting the reading frame, thus suggesting a functional role for the collagenous domain. <a href="#19" class="mim-tip-reference" title="Kobielak, K., Kobielak, A., Roszkiewicz, J., Wierzba, J., Limon, J., Trzeciak, W. H. <strong>Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia.</strong> Am. J. Med. Genet. 100: 191-197, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343303</a>]" pmid="11343303">Kobielak et al. (2001)</a> identified mutations in the EDA gene, 2 of which were novel. Despite a different character and localization of the mutations, no apparent correlation between phenotype and genotype was found. Using SSCA and direct sequencing, <a href="#33" class="mim-tip-reference" title="Vincent, M. C., Biancalana, V., Ginisty, D., Mandel, J. L., Calvas, P. <strong>Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.</strong> Europ. J. Hum. Genet. 9: 355-363, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11378824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11378824</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200635" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11378824">Vincent et al. (2001)</a> screened 52 unrelated XHED patients (42 familial and 10 sporadic cases) for mutations in the entire coding sequence of the EDA gene. A total of 34 mutated alleles (65%) were detected, including 22 different mutations, 14 of which were novel. The missense mutations arg155 to cys (R155C; <a href="#0005">300451.0005</a>), arg156 to cys (R156C; <a href="#0006">300451.0006</a>), and arg156 to his (R156H; <a href="#0007">300451.0007</a>), affecting CpG dinucleotides in exon 3, represented 35% of the mutated alleles. Review of the clinical features showed no obvious genotype/phenotype correlation. An inter- and intrafamilial variability of clinical expression in male patients was noticed. The X-inactivation pattern in leukocytes demonstrated a weak (if any) correlation with the severity of the disease in female carriers. Only 2 proven female carriers (8%) among the 26 examined showed no clinical sign. Combined with previous mutation reports, the authors tabulated a total of 56 different mutations (48 point mutations, including small deletions and insertions, and 8 larger deletions) reported in 85 independent patients. Mutations were distributed in all but exons 2 and 4. Whereas mutations in exons 3 and 8 are missense mutations, most of the mutations in exon 5 are deletions or insertions, probably due to the repetitive nature of this region favoring polymerase slippage. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11378824+9736768+11343303" 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="#34" class="mim-tip-reference" title="Visinoni, A. F., de Souza, R. L. R., Freire-Maia, N., Gollop, T. R., Chautard-Freire-Maia, E. A. <strong>X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families.</strong> Am. J. Med. Genet. 122A: 51-55, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12949972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12949972</a>] [<a href="https://doi.org/10.1002/ajmg.a.20276" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12949972">Visinoni et al. (2003)</a> tabulated 64 different mutations in the EDA gene that had been related to X-linked ectodermal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12949972" 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 Han Chinese family with X-linked hypohidrotic ectodermal dysplasia, <a href="#16" class="mim-tip-reference" title="Huang, C., Yang, Q., Ke, T., Wang, H., Wang, X., Shen, J., Tu, X., Tian, J., Liu, J. Y., Wang, Q. K., Liu, M. <strong>A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.</strong> J. Hum. Genet. 51: 1133-1137, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17066260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17066260</a>] [<a href="https://doi.org/10.1007/s10038-006-0071-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17066260">Huang et al. (2006)</a> identified a de novo 1-bp insertion in exon 4 of the EDA gene (<a href="#0016">300451.0016</a>). The authors stated that this was the first de novo insertion identified in the EDA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17066260" 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="#21" class="mim-tip-reference" title="Lexner, M. O., Bardow, A., Juncker, I., Jensen, L. G., Almer, L., Kreiborg, S., Hertz, J. M. <strong>X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.</strong> Clin. Genet. 74: 252-259, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18510547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18510547</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.01037.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18510547">Lexner et al. (2008)</a> identified 16 different mutations in the EDA gene in 19 Dutch families with X-linked HED. Nine of the mutations were novel. In addition, multiplex ligation-dependent probe amplification (MLPA) analysis detected a deletion in exon 1. There were no genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18510547" 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="#12" class="mim-tip-reference" title="Ferrier, R. A., Lowry, R. B., Lemire, E. G., Stoeber, G. P., Howard, J., Parboosingh, J. S. <strong>Father-to-son transmission of an X-linked gene: a case of paternal sex chromosome heterodisomy (Letter)</strong> Am. J. Med. Genet. 149A: 2871-2873, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19921643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19921643</a>] [<a href="https://doi.org/10.1002/ajmg.a.32994" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19921643">Ferrier et al. (2009)</a> reported father-to-son transmission of XHED by sex chromosome heterodisomy (<a href="#0019">300451.0019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19921643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Pakistani man with severe generalized hyperkeratosis who was originally diagnosed with Lelis syndrome (<a href="/entry/608290">608290</a>), <a href="#32" class="mim-tip-reference" title="van Steensel, M. A. M., van der Hout, A. H. <strong>Lelis syndrome may be a manifestation of hypohidrotic ectodermal dysplasia. (Letter)</strong> Am. J. Med. Genet. 149A: 1612-1613, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19533796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19533796</a>] [<a href="https://doi.org/10.1002/ajmg.a.32945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19533796">van Steensel and van der Hout (2009)</a> analyzed the EDA gene and identified the R156H (<a href="#0007">300451.0007</a>) mutation. The authors suggested that Lelis syndrome may be a manifestation of X-linked HED. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19533796" 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="#23" class="mim-tip-reference" title="Schneider, H., Faschingbauer, F., Schuepbach-Mallepell, S., Korber, I., Wohlfart, S., Dick, A., Wahlbuhl, M., Kowalczyk-Quintas, C., Vigolo, M., Kirby, N., Tannert, C., Rompel, O., Rascher, W., Beckmann, M. W., Schneider, P. <strong>Prenatal correction of X-linked hypohidrotic ectodermal dysplasia.</strong> New Eng. J. Med. 378: 1604-1610, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29694819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29694819</a>] [<a href="https://doi.org/10.1056/NEJMoa1714322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29694819">Schneider et al. (2018)</a> administered a recombinant fusion protein, Fc-EDA, consisting of the receptor-binding domain of EDA and the Fc domain of human IgG1, intraamniotically to an affected pair of twin male fetuses and an unrelated male fetus. The infants were able to sweat normally and XLHED-related illness had not developed by 14 to 22 months of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29694819" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>X-Linked Hypodontia</em></strong></p><p>
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<a href="#30" class="mim-tip-reference" title="Tao, R., Jin, B., Guo, S. Z., Qing, W., Feng, G. Y., Brooks, D. G., Liu, L., Xu, J., Li, T., Yan, Y., He, L. <strong>A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.</strong> J. Hum. Genet. 51: 498-502, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16583127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16583127</a>] [<a href="https://doi.org/10.1007/s10038-006-0389-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16583127">Tao et al. (2006)</a> identified a mutation in the EDA gene (<a href="#0014">300451.0014</a>) in affected members of a Mongolian family with selective tooth agenesis (STHAGX1; <a href="/entry/313500">313500</a>). <a href="#31" class="mim-tip-reference" title="Tarpey, P., Pemberton, T. J., Stockton, D. W., Das, P., Ninis, V., Edkins, S., Futreal, P. A., Wooster, R., Kamath, S., Nayak, R., Stratton, M. R., Patel, P. I. <strong>A novel gln358glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.</strong> Am. J. Med. Genet. 143A: 390-394, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17256800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17256800</a>] [<a href="https://doi.org/10.1002/ajmg.a.31567" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17256800">Tarpey et al. (2007)</a> identified a mutation in the EDA gene (<a href="#0015">300451.0015</a>) in an Indian family with X-linked hypodontia affecting the incisors. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17256800+16583127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 affected males and 1 affected female carrier from a Chinese family with congenital hypodontia, <a href="#14" class="mim-tip-reference" title="Han, D., Gong, Y., Wu, H., Zhang, X., Yan, M., Wang, X., Qu, H., Feng, H., Song, S. <strong>Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis.</strong> Europ. J. Med. Genet. 51: 536-546, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18657636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18657636</a>] [<a href="https://doi.org/10.1016/j.ejmg.2008.06.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18657636">Han et al. (2008)</a> identified a mutation in the EDA gene (T338M; <a href="#0018">300451.0018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18657636" 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 15 unrelated Chinese men with selective tooth agenesis, <a href="#26" class="mim-tip-reference" title="Song, S., Han, D., Qu, H., Gong, Y., Wu, H., Zhang, X., Zhong, N., Feng, H. <strong>EDA gene mutations underlie non-syndromic oligodontia.</strong> J. Dent. Res. 88: 126-131, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19278982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19278982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19278982[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/10.1177/0022034508328627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19278982">Song et al. (2009)</a> sequenced the EDA gene and identified 4 patients with missense mutations: A259E (<a href="#0020">300451.0020</a>) in 2 of the patients, and R289C (<a href="#0021">300451.0021</a>) and R334H (<a href="#0022">300451.0022</a>) in 1 each. None of the mutations were found in 60 Chinese female controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19278982" 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="#25" class="mim-tip-reference" title="Shen, W., Wang, Y., Liu, Y., Liu, H., Zhao, H., Zhang, G., Snead, M. L., Han, D., Feng, H. <strong>Functional study of ectodysplasin-A mutations causing non-syndromic tooth agenesis.</strong> PLoS One 11: e0154884, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27144394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27144394</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27144394[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/10.1371/journal.pone.0154884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27144394">Shen et al. (2016)</a> analyzed 6 mutations in the EDA gene, including the nonsyndromic tooth agenesis (STHAGX1)-associated variants A259E, R289C, R334H, and S374R, and 2 XHED-associated changes, H252L (<a href="#0023">300451.0023</a>) and Y343C. The binding of all 4 STHAGX1-associated EDA proteins to the receptor EDAR was variably reduced compared to wildtype, whereas the 2 XHED-associated proteins showed complete loss of receptor-binding capability. Binding to the ectodysplasin A2 receptor (XEDAR) was also variably reduced with the tooth agenesis-associated proteins, and both XHED-causing mutants retained residual binding to XEDAR. Nuclear translocation of the NFKB subunit p65 (RELA; <a href="/entry/164014">164014</a>) in the epithelium-derived ameloblast cell line LS8 was significantly reduced with all 6 EDA mutants compared to wildtype, and it was significantly more decreased in the XHED-causing mutants than in those associated with nonsyndromic tooth agenesis. Dual luciferase assay confirmed the impairment of transcriptional activation of NFKB by all 6 mutant proteins compared to wildtype EDA, with no significant difference observed between the STHAGX1- or XHED-associated mutants. RT-PCR analysis in transfected LS8 cells demonstrated significantly increased expression of BMP4 (<a href="/entry/112262">112262</a>) with the mutants compared to wildtype, and BMP4 expression was significantly more increased with the XHED-associated mutations than with the STHAGX1-associated mutations. In contrast, WNT10A (<a href="/entry/606268">606268</a>) expression was significantly downregulated by all 6 EDA mutants compared to wildtype EDA, and WNT10B (<a href="/entry/601906">601906</a>) expression was significantly downregulated by the XHED-associated mutants. <a href="#25" class="mim-tip-reference" title="Shen, W., Wang, Y., Liu, Y., Liu, H., Zhao, H., Zhang, G., Snead, M. L., Han, D., Feng, H. <strong>Functional study of ectodysplasin-A mutations causing non-syndromic tooth agenesis.</strong> PLoS One 11: e0154884, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27144394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27144394</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27144394[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/10.1371/journal.pone.0154884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27144394">Shen et al. (2016)</a> suggested that EDA mutations associated with nonsyndromic tooth agenesis attenuate signaling through the NFKB pathway rather than completely blocking it, as occurs in XHED. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27144394" 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="#2" class="mim-tip-reference" title="Casal, M. L., Lewis, J. R., Mauldin, E. A., Tardivel, A., Ingold, K., Favre, M., Paradies, F., Demotz, S., Gaide, O., Schneider, P. <strong>Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia.</strong> Am. J. Hum. Genet. 81: 1050-1056, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17924345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17924345</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17924345[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/10.1086/521988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17924345">Casal et al. (2007)</a> studied a canine model of XHED. Dogs have dentition similar to that in humans with respect to development and morphology of teeth. Also, clinical signs in humans and dogs with XHED are virtually identical, whereas several are missing in the murine equivalent. <a href="#2" class="mim-tip-reference" title="Casal, M. L., Lewis, J. R., Mauldin, E. A., Tardivel, A., Ingold, K., Favre, M., Paradies, F., Demotz, S., Gaide, O., Schneider, P. <strong>Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia.</strong> Am. J. Hum. Genet. 81: 1050-1056, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17924345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17924345</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17924345[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/10.1086/521988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17924345">Casal et al. (2007)</a> found that in the dog model the genetically missing EDA was compensated for by postnatal intravenous administration of soluble recombinant EDA. Untreated XHED dogs had an incomplete set of conically shaped teeth similar to those seen in human patients with XHED. After treatment with EDA, significant normalization of adult teeth was achieved in 4 of 5 XHED dogs. Moreover, treatment restored normal lacrimation and resistance to eye and airway infections and improved sweating ability. The results not only provided proof of concept for a potential treatment of this disorder but also demonstrated an essential role of EDA in the development of secondary dentition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17924345" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300451[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</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">rs132630308 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630308;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=rs132630308" 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=rs132630308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a family with X-linked hypohidrotic ectodermal dysplasia (XHED, ECTD1; <a href="/entry/305100">305100</a>) from the United Kingdom, <a href="#18" class="mim-tip-reference" title="Kere, J., Srivastava, A. K., Montonen, O., Zonana, J., Thomas, N., Ferguson, B, Munoz, F., Morgan, D., Clarke, A., Baybayan, P., Chen, E. Y., Ezer, S., Saarialho-Kere, U., de la Chapelle, A., Schlessinger, D. <strong>X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.</strong> Nature Genet. 13: 409-416, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8696334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8696334</a>] [<a href="https://doi.org/10.1038/ng0895-409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8696334">Kere et al. (1996)</a> identified a tyr61-to-his mutation in a novel transmembrane protein resulting from a T-to-C transition at nucleotide 423. This was 1 of 9 point mutations identified in patients with this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8696334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs132630309 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630309;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs132630309?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs132630309" 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=rs132630309" 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=RCV000011779 OR RCV000218834 OR RCV000432524 OR RCV003894799" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011779, RCV000218834, RCV000432524, RCV003894799" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011779...</a>
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<p>In a family with X-linked hypohidrotic ectodermal dysplasia (XHED, ECTD1; <a href="/entry/305100">305100</a>) from the United Kingdom and another from the U.S., <a href="#18" class="mim-tip-reference" title="Kere, J., Srivastava, A. K., Montonen, O., Zonana, J., Thomas, N., Ferguson, B, Munoz, F., Morgan, D., Clarke, A., Baybayan, P., Chen, E. Y., Ezer, S., Saarialho-Kere, U., de la Chapelle, A., Schlessinger, D. <strong>X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.</strong> Nature Genet. 13: 409-416, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8696334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8696334</a>] [<a href="https://doi.org/10.1038/ng0895-409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8696334">Kere et al. (1996)</a> found an association between EDA and a point mutation, a G-to-T transversion at nucleotide 448 resulting in an arg69-to-leu amino acid substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8696334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</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">rs132630310 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630310;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=rs132630310" 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=rs132630310" 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=RCV000011780 OR RCV004786252" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011780, RCV004786252" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011780...</a>
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<p>One of the relatively few EDA (<a href="/entry/305100">305100</a>) mutations found by <a href="#11" class="mim-tip-reference" title="Ferguson, B. M., Thomas, N. S. T., Munoz, F., Morgan, D., Clarke, A., Zonana, J. <strong>Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.</strong> J. Med. Genet. 35: 112-115, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9507389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9507389</a>] [<a href="https://doi.org/10.1136/jmg.35.2.112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9507389">Ferguson et al. (1998)</a> in patients with XHED was a 366C-T transition resulting in a gln23-to-ter nonsense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9507389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</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">rs132630311 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630311;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=rs132630311" 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=rs132630311" 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=RCV000011781" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011781" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011781</a>
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<p>One of the relatively few EDA (<a href="/entry/305100">305100</a>) mutations found by <a href="#11" class="mim-tip-reference" title="Ferguson, B. M., Thomas, N. S. T., Munoz, F., Morgan, D., Clarke, A., Zonana, J. <strong>Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.</strong> J. Med. Genet. 35: 112-115, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9507389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9507389</a>] [<a href="https://doi.org/10.1136/jmg.35.2.112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9507389">Ferguson et al. (1998)</a> in patients with XHED was a 429G-A transition resulting in a glu63-to-lys amino acid substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9507389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
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EDA, ARG155CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs132630312 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630312;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=rs132630312" 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=rs132630312" 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=RCV000011782 OR RCV000254983 OR RCV000763630" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011782, RCV000254983, RCV000763630" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011782...</a>
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<p>In a patient with XHED (<a href="/entry/305100">305100</a>), <a href="#22" class="mim-tip-reference" title="Monreal, A. W., Zonana, J., Ferguson, B. <strong>Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.</strong> Am. J. Hum. Genet. 63: 380-389, 1998. Note: Erratum: Am. J. Hum. Genet. 63: 1253-1255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683615</a>] [<a href="https://doi.org/10.1086/301984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683615">Monreal et al. (1998)</a> found a 704C-T transition in exon 3 of the EDA gene, causing an arg155-to-cys amino acid substitution in isoform II of the EDA protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</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">rs132630313 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630313;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=rs132630313" 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=rs132630313" 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=RCV000011783 OR RCV000414306 OR RCV003390668" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011783, RCV000414306, RCV003390668" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011783...</a>
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<p>In a patient with XHED (<a href="/entry/305100">305100</a>), <a href="#22" class="mim-tip-reference" title="Monreal, A. W., Zonana, J., Ferguson, B. <strong>Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.</strong> Am. J. Hum. Genet. 63: 380-389, 1998. Note: Erratum: Am. J. Hum. Genet. 63: 1253-1255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683615</a>] [<a href="https://doi.org/10.1086/301984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683615">Monreal et al. (1998)</a> found a 707C-T transition in exon 3 of the EDA gene, predicted to result in an arg156-to-cys amino acid substitution in isoform II of the EDA protein. This was a de novo mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</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">rs132630314 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630314;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=rs132630314" 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=rs132630314" 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=RCV000032612 OR RCV000255365 OR RCV002490354" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032612, RCV000255365, RCV002490354" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032612...</a>
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<p>In a patient with XHED (<a href="/entry/305100">305100</a>), <a href="#22" class="mim-tip-reference" title="Monreal, A. W., Zonana, J., Ferguson, B. <strong>Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.</strong> Am. J. Hum. Genet. 63: 380-389, 1998. Note: Erratum: Am. J. Hum. Genet. 63: 1253-1255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683615</a>] [<a href="https://doi.org/10.1086/301984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683615">Monreal et al. (1998)</a> found a 708G-A transition in exon 3 of the EDA gene, resulting in an arg156-to-his amino acid substitution in isoform II of the EDA protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of 52 unrelated patients with XHED, <a href="#33" class="mim-tip-reference" title="Vincent, M. C., Biancalana, V., Ginisty, D., Mandel, J. L., Calvas, P. <strong>Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.</strong> Europ. J. Hum. Genet. 9: 355-363, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11378824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11378824</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200635" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11378824">Vincent et al. (2001)</a> detected the R156H mutation in 9 patients. Haplotype analysis using markers closely flanking the EDA gene and 2 intragenic polymorphisms demonstrated that R156H, R155C (<a href="#0005">300451.0005</a>), and R156C (<a href="#0006">300451.0006</a>) arose independently. The mutation appeared de novo in 3 of the cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11378824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Pakistani man with severe generalized hyperkeratosis who was originally diagnosed with Lelis syndrome (<a href="/entry/608290">608290</a>), <a href="#32" class="mim-tip-reference" title="van Steensel, M. A. M., van der Hout, A. H. <strong>Lelis syndrome may be a manifestation of hypohidrotic ectodermal dysplasia. (Letter)</strong> Am. J. Med. Genet. 149A: 1612-1613, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19533796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19533796</a>] [<a href="https://doi.org/10.1002/ajmg.a.32945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19533796">van Steensel and van der Hout (2009)</a> analyzed the EDA gene and identified the R156H mutation. The authors suggested that Lelis syndrome may be a manifestation of X-linked HED. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19533796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
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EDA, PRO209LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs132630315 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630315;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=rs132630315" 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=rs132630315" 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=RCV000011785 OR RCV000154610" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011785, RCV000154610" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011785...</a>
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<p>In a patient with XHED (<a href="/entry/305100">305100</a>), <a href="#22" class="mim-tip-reference" title="Monreal, A. W., Zonana, J., Ferguson, B. <strong>Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.</strong> Am. J. Hum. Genet. 63: 380-389, 1998. Note: Erratum: Am. J. Hum. Genet. 63: 1253-1255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683615</a>] [<a href="https://doi.org/10.1086/301984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683615">Monreal et al. (1998)</a> found an 867C-T transition in exon 5, predicted to result in a pro209-to-leu amino acid substitution in isoform II of the EDA protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683615" 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="0009" class="mim-anchor"></a>
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<strong>.0009 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
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EDA, GLY224ALA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs132630316 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630316;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=rs132630316" 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=rs132630316" 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=RCV000011786" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011786" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011786</a>
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<p>In a patient with XHED (<a href="/entry/305100">305100</a>), <a href="#22" class="mim-tip-reference" title="Monreal, A. W., Zonana, J., Ferguson, B. <strong>Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.</strong> Am. J. Hum. Genet. 63: 380-389, 1998. Note: Erratum: Am. J. Hum. Genet. 63: 1253-1255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683615</a>] [<a href="https://doi.org/10.1086/301984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683615">Monreal et al. (1998)</a> found a 912G-C transversion in exon 5 of the EDA gene, predicted to result in a gly224-to-ala amino acid substitution in isoform II of the EDA protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683615" 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="0010" class="mim-anchor"></a>
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<strong>.0010 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
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EDA, ALA349THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs132630317 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630317;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=rs132630317" 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=rs132630317" 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=RCV000011787 OR RCV000255050" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011787, RCV000255050" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011787...</a>
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<p>In 2 apparently unrelated families, <a href="#22" class="mim-tip-reference" title="Monreal, A. W., Zonana, J., Ferguson, B. <strong>Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.</strong> Am. J. Hum. Genet. 63: 380-389, 1998. Note: Erratum: Am. J. Hum. Genet. 63: 1253-1255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683615</a>] [<a href="https://doi.org/10.1086/301984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683615">Monreal et al. (1998)</a> found that males with XHED (<a href="/entry/305100">305100</a>) had a 1285G-A transition in exon 9 of the EDA gene, predicted to result in an ala349-to-thr amino acid substitution in isoform II of the EDA protein. Since in 1 of these families the affected male represented a de novo mutation, the 2 families were almost certainly not related. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683615" 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="0011" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0011 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
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</span>
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EDA, TYR61TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs132630318 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630318;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=rs132630318" 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=rs132630318" 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=RCV000011788" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011788" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011788</a>
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<p>In a Japanese patient with EDA (<a href="/entry/305100">305100</a>), <a href="#36" class="mim-tip-reference" title="Yotsumoto, S., Fukumaru, S., Matsushita, S., Oku, T., Kobayashi, K., Saheki, T., Kanzaki, T. <strong>A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia. (Letter)</strong> J. Invest. Derm. 111: 1246-1247, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856856</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1998.00443.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9856856">Yotsumoto et al. (1998)</a> found a change of codon 61 from TAC (tyr) to TAG (stop). This nonsense mutation (tyr61 to ter) occurred in the same codon, located on the most extracellular end of the transmembrane domain, as that involved in the relatively frequent Y61H missense mutation (<a href="#0001">300451.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856856" 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="0012" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0012 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
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</span>
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EDA, 36-BP DEL, EX5
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011789" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011789" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011789</a>
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<p>In 1 of 4 Brazilian families with XHED (<a href="/entry/305100">305100</a>), <a href="#34" class="mim-tip-reference" title="Visinoni, A. F., de Souza, R. L. R., Freire-Maia, N., Gollop, T. R., Chautard-Freire-Maia, E. A. <strong>X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families.</strong> Am. J. Med. Genet. 122A: 51-55, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12949972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12949972</a>] [<a href="https://doi.org/10.1002/ajmg.a.20276" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12949972">Visinoni et al. (2003)</a> described a 36-bp deletion in exon 5 responsible for the loss of 4 Gly-X-Y repeats of the collagen subdomain of ectodysplasin A. The deletion had already been reported in 8 other families. Seven different breakpoints can lead to the same deletion result. The mutational process leading to the deletion may vary in the reported families. The experience indicates the importance of the Gly-X-Y repeats of the collagen subdomain in the function of ectodysplasin A (<a href="#1" class="mim-tip-reference" title="Bayes, M., Hartung, A. J., Ezer, S., Pispa, J., Thesleff, I., Srivastava, A. K., Kere, J. <strong>The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.</strong> Hum. Molec. Genet. 7: 1661-1669, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9736768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9736768</a>] [<a href="https://doi.org/10.1093/hmg/7.11.1661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9736768">Bayes et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12949972+9736768" 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>.0013 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011790" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011790" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011790</a>
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<p>In 1 of 4 Brazilian families with XHED (<a href="/entry/305100">305100</a>), <a href="#34" class="mim-tip-reference" title="Visinoni, A. F., de Souza, R. L. R., Freire-Maia, N., Gollop, T. R., Chautard-Freire-Maia, E. A. <strong>X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families.</strong> Am. J. Med. Genet. 122A: 51-55, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12949972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12949972</a>] [<a href="https://doi.org/10.1002/ajmg.a.20276" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12949972">Visinoni et al. (2003)</a> described a guanine deletion at exon 6 of the EDA gene (either 966 or 967 site) that altered ectodysplasin A after amino acid 241 and led to a premature ending at amino acid 279. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12949972" 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">rs132630319 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630319;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=rs132630319" 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=rs132630319" 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=RCV000011791" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011791" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011791</a>
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<p>In a Mongolian family segregating X-linked isolated congenital hypodontia (STHAGX1; <a href="/entry/313500">313500</a>), <a href="#30" class="mim-tip-reference" title="Tao, R., Jin, B., Guo, S. Z., Qing, W., Feng, G. Y., Brooks, D. G., Liu, L., Xu, J., Li, T., Yan, Y., He, L. <strong>A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.</strong> J. Hum. Genet. 51: 498-502, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16583127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16583127</a>] [<a href="https://doi.org/10.1007/s10038-006-0389-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16583127">Tao et al. (2006)</a> identified a 193C-G transversion in exon 1 of the EDA gene, resulting in an arg65-to-gly (R65G) substitution in the juxtamembrane region of the protein, in all affected males and carrier females. The mutation was not found in 90 unrelated normal Han Chinese individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16583127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0015 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1</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">rs132630320 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630320;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=rs132630320" 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=rs132630320" 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=RCV000011792" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011792" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011792</a>
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<p>In affected individuals from a large Indian family with X-linked hypodontia (STHAGX1; <a href="/entry/313500">313500</a>), <a href="#31" class="mim-tip-reference" title="Tarpey, P., Pemberton, T. J., Stockton, D. W., Das, P., Ninis, V., Edkins, S., Futreal, P. A., Wooster, R., Kamath, S., Nayak, R., Stratton, M. R., Patel, P. I. <strong>A novel gln358glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.</strong> Am. J. Med. Genet. 143A: 390-394, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17256800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17256800</a>] [<a href="https://doi.org/10.1002/ajmg.a.31567" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17256800">Tarpey et al. (2007)</a> identified a 1072C-G transversion in exon 8 of the EDA gene, resulting in a gln358-to-glu (Q358E) substitution. The residue is completely conserved in all species observed, but is predicted to only partially disrupt protein function, consistent with the unique hypodontia phenotype. Most patients had absence of all mandibular incisors and maxillary lateral incisors with maxillary central incisors missing in some cases. Both primary and permanent dentition were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17256800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0016 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
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EDA, 1-BP INS, 573T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1569404873 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569404873;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=rs1569404873" 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=rs1569404873" 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=RCV000011793" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011793" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011793</a>
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<p>In 2 Han Chinese brothers with X-linked hypohidrotic ectodermal dysplasia (<a href="/entry/305100">305100</a>) and their unaffected mother, <a href="#16" class="mim-tip-reference" title="Huang, C., Yang, Q., Ke, T., Wang, H., Wang, X., Shen, J., Tu, X., Tian, J., Liu, J. Y., Wang, Q. K., Liu, M. <strong>A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.</strong> J. Hum. Genet. 51: 1133-1137, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17066260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17066260</a>] [<a href="https://doi.org/10.1007/s10038-006-0071-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17066260">Huang et al. (2006)</a> identified a 1-bp insertion (573insT) in exon 4 of the EDA gene. The mutation was not found in the maternal grandparents or in 200 controls. The authors stated that this was the first de novo insertion identified in the EDA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17066260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0017 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</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">rs1569406514 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569406514;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=rs1569406514" 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=rs1569406514" 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=RCV000011794" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011794" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011794</a>
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<p>In a boy with X-linked hypohidrotic ectodermal dysplasia (<a href="/entry/305100">305100</a>), <a href="#24" class="mim-tip-reference" title="Schneider, H., Muhle, C. <strong>X-chromosomal insertions at a recurrent site causing ectodermal dysplasia.</strong> Europ. J. Derm. 19: 178-179, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19264582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19264582</a>] [<a href="https://doi.org/10.1684/ejd.2008.0596" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19264582">Schneider and Muhle (2009)</a> identified 2-bp insertion (913insTA) in exon 8 of the EDA gene, resulting in a frameshift and premature termination. His unaffected mother was heterozygous for the mutation. Sequence analysis indicated that the insertion represented a TA repeat expansion that was likely susceptible to slipped-strand mispairing during DNA replication. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19264582" 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>.0018 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs132630321 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630321;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs132630321?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs132630321" 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=rs132630321" 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=RCV000011795 OR RCV001205829 OR RCV005049332" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011795, RCV001205829, RCV005049332" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011795...</a>
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<p>In 4 affected males from a Chinese family with congenital hypodontia (STHAGX1; <a href="/entry/313500">313500</a>), <a href="#14" class="mim-tip-reference" title="Han, D., Gong, Y., Wu, H., Zhang, X., Yan, M., Wang, X., Qu, H., Feng, H., Song, S. <strong>Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis.</strong> Europ. J. Med. Genet. 51: 536-546, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18657636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18657636</a>] [<a href="https://doi.org/10.1016/j.ejmg.2008.06.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18657636">Han et al. (2008)</a> identified a hemizygous 1013C-T transition in exon 8 of the EDA gene, resulting in a thr338-to-met (T338M) substitution that changes the residue from hydrophilic to hydrophobic and is predicted to cause a conformational change affecting the stability of the homotrimer. The mutation was found in 6 female carriers, including 1 affected female with missing lateral incisors, but not in unaffected family members, and was not found in 120 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18657636" 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>.0019 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
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EDA, ARG276CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907197 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907197;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=rs387907197" 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=rs387907197" 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=RCV000024599 OR RCV000626808 OR RCV002262574" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024599, RCV000626808, RCV002262574" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024599...</a>
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<p>In a boy and his affected father with X-linked hypohidrotic ectodermal dysplasia (XHED; <a href="/entry/305100">305100</a>), <a href="#12" class="mim-tip-reference" title="Ferrier, R. A., Lowry, R. B., Lemire, E. G., Stoeber, G. P., Howard, J., Parboosingh, J. S. <strong>Father-to-son transmission of an X-linked gene: a case of paternal sex chromosome heterodisomy (Letter)</strong> Am. J. Med. Genet. 149A: 2871-2873, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19921643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19921643</a>] [<a href="https://doi.org/10.1002/ajmg.a.32994" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19921643">Ferrier et al. (2009)</a> detected hemizygosity for an 826C-T transition in exon 7, resulting in an arg276-to-cys (R276C) substitution. Results of analysis of polymorphic X chromosome markers were consistent with paternal inheritance of the X chromosome. Family history revealed an affected paternal great-great uncle, a male first cousin once removed, and 2 male second cousins. Analysis of the EDA gene in the 2 second cousins showed hemizygosity for the R276 mutation, which was inherited from their carrier mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19921643" 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="0020" class="mim-anchor"></a>
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<strong>.0020 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1</strong>
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EDA, ALA259GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879255611 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255611;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=rs879255611" 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=rs879255611" 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=RCV000239463" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239463" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239463</a>
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<p>In 2 unrelated Chinese men with selective tooth agenesis (STHAGX1; <a href="/entry/313500">313500</a>), <a href="#26" class="mim-tip-reference" title="Song, S., Han, D., Qu, H., Gong, Y., Wu, H., Zhang, X., Zhong, N., Feng, H. <strong>EDA gene mutations underlie non-syndromic oligodontia.</strong> J. Dent. Res. 88: 126-131, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19278982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19278982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19278982[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/10.1177/0022034508328627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19278982">Song et al. (2009)</a> identified a c.776C-A transversion in exon 6 of the EDA gene, resulting in an ala259-to-glu (A259E) substitution at a residue on the outer surface of the homotrimer. The mutation was shown to have arisen de novo in 1 of the patients, and was not found in 60 Chinese female controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19278982" 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="0021" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0021 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1</strong>
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EDA, ARG289CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879255551 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255551;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=rs879255551" 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=rs879255551" 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=RCV000239506 OR RCV000692210" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239506, RCV000692210" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239506...</a>
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<span class="mim-text-font">
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<p>In a Chinese man with selective tooth agenesis (STHAGX1; <a href="/entry/313500">313500</a>), <a href="#26" class="mim-tip-reference" title="Song, S., Han, D., Qu, H., Gong, Y., Wu, H., Zhang, X., Zhong, N., Feng, H. <strong>EDA gene mutations underlie non-syndromic oligodontia.</strong> J. Dent. Res. 88: 126-131, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19278982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19278982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19278982[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/10.1177/0022034508328627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19278982">Song et al. (2009)</a> identified a c.865C-T transition in exon 7 of the EDA gene, resulting in an arg289-to-cys (R289C) substitution at a residue on the outer surface of the homotrimer. His unaffected mother carried the mutation, which was not found in 60 Chinese female controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19278982" 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="0022" class="mim-anchor"></a>
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<h4>
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<strong>.0022 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1</strong>
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EDA, ARG334HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs142948132 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs142948132;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs142948132?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs142948132" 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=rs142948132" 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=RCV000239557 OR RCV000864637 OR RCV001573758 OR RCV002252063 OR RCV002494688" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239557, RCV000864637, RCV001573758, RCV002252063, RCV002494688" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239557...</a>
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<p>In a Chinese man with selective tooth agenesis (STHAGX1; <a href="/entry/313500">313500</a>), <a href="#26" class="mim-tip-reference" title="Song, S., Han, D., Qu, H., Gong, Y., Wu, H., Zhang, X., Zhong, N., Feng, H. <strong>EDA gene mutations underlie non-syndromic oligodontia.</strong> J. Dent. Res. 88: 126-131, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19278982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19278982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19278982[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/10.1177/0022034508328627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19278982">Song et al. (2009)</a> identified a c.1001G-A transition in exon 8 of the EDA gene, resulting in an arg334-to-his (R334H) substitution at the monomer-monomer interface. His unaffected mother carried the mutation, which was not found in 60 Chinese female controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19278982" 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="0023" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0023 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
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</h4>
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EDA, HIS252LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879255552 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255552;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=rs879255552" 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=rs879255552" 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=RCV000239466" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239466" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239466</a>
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<p>In a patient with X-linked hypohidrotic ectodermal dysplasia (XHED; <a href="/entry/305100">305100</a>), <a href="#22" class="mim-tip-reference" title="Monreal, A. W., Zonana, J., Ferguson, B. <strong>Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.</strong> Am. J. Hum. Genet. 63: 380-389, 1998. Note: Erratum: Am. J. Hum. Genet. 63: 1253-1255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683615</a>] [<a href="https://doi.org/10.1086/301984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683615">Monreal et al. (1998)</a> identified heterozygosity for a 986A-T transversion in exon 7 of the EDA gene, resulting in a his252-to-leu (H252L) substitution in isoform II of the EDA protein. The mutation was not found in 60 control X chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Bayes1998" class="mim-anchor"></a>
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Bayes, M., Hartung, A. J., Ezer, S., Pispa, J., Thesleff, I., Srivastava, A. K., Kere, J.
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<strong>The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.</strong>
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[<a href="https://doi.org/10.1093/hmg/7.11.1661" target="_blank">Full Text</a>]
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<a id="Casal2007" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17924345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17924345</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17924345[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=17924345" 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/10.1086/521988" target="_blank">Full Text</a>]
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<a id="Chen2001" class="mim-anchor"></a>
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Chen, Y., Molloy, S. S., Thomas, L., Gambee, J., Bachinger, H. P., Ferguson, B., Zonana, J., Thomas, G., Morris, N. P.
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<strong>Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11416205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11416205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11416205[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=11416205" 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/10.1073/pnas.131076098" target="_blank">Full Text</a>]
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Cui, C.-Y., Durmowicz, M., Ottolenghi, C., Hashimoto, T., Griggs, B., Srivastava, A. K., Schlessinger, D.
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<strong>Inducible mEDA-A1 transgene mediates sebaceous gland hyperplasia and differential formation of two types of mouse hair follicles.</strong>
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Hum. Molec. Genet. 12: 2931-2940, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14506134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14506134</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14506134" 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/ddg325" target="_blank">Full Text</a>]
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Cui, C.-Y., Durmowicz, M., Tanaka, T. S., Hartung, A. J., Tezuka, T., Hashimoto, K., Ko, M. S. H., Srivastava, A. K., Schlessinger, D.
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<strong>EDA targets revealed by skin gene expression profiles of wild-type, Tabby and Tabby EDA-A1 transgenic mice.</strong>
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Hum. Molec. Genet. 11: 1763-1773, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12095918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12095918</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12095918" 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/11.15.1763" target="_blank">Full Text</a>]
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Cui, C.-Y., Hashimoto, T., Grivennikov, S. I., Piao, Y., Nedospasov, S. A., Schlessinger, D.
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<strong>Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16738056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16738056</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16738056[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=16738056" 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/10.1073/pnas.0509678103" target="_blank">Full Text</a>]
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Durmowicz, M. C., Cui, C.-Y., Schlessinger, D.
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<strong>The EDA gene is a target of, but does not regulate Wnt signaling.</strong>
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Gene 285: 203-211, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12039047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12039047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12039047" 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/s0378-1119(02)00407-9" target="_blank">Full Text</a>]
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<a id="Elomaa2001" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1093/hmg/10.9.953" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/8.11.2079" target="_blank">Full Text</a>]
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<strong>Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9285798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9285798</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9285798" 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/6.9.1589" target="_blank">Full Text</a>]
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<strong>Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9507389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9507389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9507389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19921643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19921643</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19921643" 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.a.32994" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12692542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12692542</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12692542" 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/nm861" target="_blank">Full Text</a>]
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Han, D., Gong, Y., Wu, H., Zhang, X., Yan, M., Wang, X., Qu, H., Feng, H., Song, S.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16583127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16583127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16583127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10038-006-0389-2" 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="31" class="mim-anchor"></a>
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<a id="Tarpey2007" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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|
Tarpey, P., Pemberton, T. J., Stockton, D. W., Das, P., Ninis, V., Edkins, S., Futreal, P. A., Wooster, R., Kamath, S., Nayak, R., Stratton, M. R., Patel, P. I.
|
|
<strong>A novel gln358glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.</strong>
|
|
Am. J. Med. Genet. 143A: 390-394, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17256800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17256800</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17256800" 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.a.31567" 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="32" class="mim-anchor"></a>
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<a id="van Steensel2009" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
van Steensel, M. A. M., van der Hout, A. H.
|
|
<strong>Lelis syndrome may be a manifestation of hypohidrotic ectodermal dysplasia. (Letter)</strong>
|
|
Am. J. Med. Genet. 149A: 1612-1613, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19533796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19533796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19533796" 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.a.32945" 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="33" class="mim-anchor"></a>
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<a id="Vincent2001" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Vincent, M. C., Biancalana, V., Ginisty, D., Mandel, J. L., Calvas, P.
|
|
<strong>Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.</strong>
|
|
Europ. J. Hum. Genet. 9: 355-363, 2001.
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11378824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11378824</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11378824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200635" 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="34" class="mim-anchor"></a>
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<a id="Visinoni2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Visinoni, A. F., de Souza, R. L. R., Freire-Maia, N., Gollop, T. R., Chautard-Freire-Maia, E. A.
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<strong>X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families.</strong>
|
|
Am. J. Med. Genet. 122A: 51-55, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12949972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12949972</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12949972" 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.a.20276" target="_blank">Full Text</a>]
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<li>
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<a id="35" class="mim-anchor"></a>
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<a id="Yan2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yan, M., Wang, L.-C., Hymowitz, S. G., Schilbach, S., Lee, J., Goddard, A., de Vos, A. M., Gao, W.-Q., Dixit, V. M.
|
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<strong>Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors.</strong>
|
|
Science 290: 523-527, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11039935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11039935</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11039935" 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/10.1126/science.290.5491.523" 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="36" class="mim-anchor"></a>
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<a id="Yotsumoto1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yotsumoto, S., Fukumaru, S., Matsushita, S., Oku, T., Kobayashi, K., Saheki, T., Kanzaki, T.
|
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<strong>A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia. (Letter)</strong>
|
|
J. Invest. Derm. 111: 1246-1247, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856856" 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/10.1046/j.1523-1747.1998.00443.x" 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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Marla J. F. O'Neill - updated : 05/30/2018
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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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Marla J. F. O'Neill - updated : 08/15/2016<br>Marla J. F. O'Neill - updated : 6/13/2012<br>Ada Hamosh - updated : 4/16/2012<br>George E. Tiller - updated : 2/22/2010<br>Marla J. F. O'Neill - updated : 12/4/2009<br>Marla J. F. O'Neill - updated : 8/6/2009<br>Cassandra L. Kniffin - updated : 6/24/2009<br>Cassandra L. Kniffin - updated : 4/29/2009<br>Victor A. McKusick - updated : 10/10/2007<br>Ada Hamosh - updated : 6/27/2007<br>Marla J. F. O'Neill - updated : 6/7/2007<br>Cassandra L. Kniffin - updated : 3/26/2007<br>Patricia A. Hartz - updated : 7/28/2006<br>Gregory S. Antonarakis - updated : 6/30/2006<br>George E. Tiller - updated : 1/11/2006<br>Victor A. McKusick - updated : 9/30/2003
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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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Cassandra L. Kniffin : 9/9/2003
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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 : 03/25/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/19/2023<br>alopez : 08/17/2022<br>carol : 05/30/2018<br>carol : 01/04/2018<br>carol : 08/22/2016<br>carol : 08/17/2016<br>carol : 08/16/2016<br>carol : 08/15/2016<br>terry : 11/29/2012<br>carol : 11/20/2012<br>alopez : 6/14/2012<br>terry : 6/13/2012<br>alopez : 4/17/2012<br>terry : 4/16/2012<br>carol : 1/24/2012<br>carol : 3/9/2010<br>wwang : 2/23/2010<br>terry : 2/22/2010<br>carol : 12/23/2009<br>terry : 12/17/2009<br>terry : 12/4/2009<br>wwang : 8/10/2009<br>terry : 8/6/2009<br>wwang : 7/22/2009<br>ckniffin : 6/24/2009<br>wwang : 5/11/2009<br>ckniffin : 4/29/2009<br>wwang : 7/3/2008<br>alopez : 10/16/2007<br>terry : 10/10/2007<br>ckniffin : 9/21/2007<br>alopez : 7/5/2007<br>terry : 6/27/2007<br>alopez : 6/18/2007<br>wwang : 6/12/2007<br>terry : 6/7/2007<br>wwang : 4/3/2007<br>ckniffin : 3/26/2007<br>wwang : 8/7/2006<br>terry : 7/28/2006<br>carol : 6/30/2006<br>carol : 6/30/2006<br>carol : 6/30/2006<br>wwang : 1/23/2006<br>terry : 1/11/2006<br>carol : 12/9/2003<br>cwells : 9/30/2003<br>carol : 9/15/2003<br>ckniffin : 9/15/2003<br>ckniffin : 9/11/2003
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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="row">
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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> 300451
|
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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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|
|
ECTODYSPLASIN A; EDA
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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>
|
|
<span class="mim-font">
|
|
ECTODYSPLASIN<br />
|
|
EDA1 GENE<br />
|
|
ED1 GENE; ED1
|
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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-font">
|
|
Other entities represented in this entry:
|
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</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
ECTODYSPLASIN A1 ISOFORM, INCLUDED
|
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</span>
|
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</div>
|
|
|
|
<div>
|
|
<span class="h4 mim-font">
|
|
|
|
EDA-A1, INCLUDED<br />
|
|
ECTODYSPLASIN A2 ISOFORM, INCLUDED<br />
|
|
EDA-A2, INCLUDED
|
|
</span>
|
|
</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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: EDA</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> 239007005, 7731005;
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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">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: Xq13.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : X:69,616,113-70,039,472 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
Xq13.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Ectodermal dysplasia 1, hypohidrotic, X-linked
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
305100
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
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|
</tr>
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|
|
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|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Tooth agenesis, selective, X-linked 1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
313500
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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|
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</tbody>
|
|
</table>
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|
</div>
|
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</div>
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<div>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<strong>Cloning and Expression</strong>
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<p>To identify the gene for human X-linked anhidrotic ectodermal dysplasia (EDA) (XHED; 305100), Srivastava et al. (1996) fine mapped the translocation breakpoint in an EDA patient with the translocation t(X;1)(q13.1;p36.3). They determined that the EDA candidate region contains 5 groups of rare-cutter restriction sites that define CpG islands. The third of these CpG islands mapped within less than 1 kb of the translocation breakpoint, as indicated by a genomic rearrangement, and approximately 100 kb centromeric from another previously mapped translocation breakpoint. Northern blot analysis with a probe from this CpG island detected an mRNA of approximately 6 kb in several fetal tissues tested. Srivastava et al. (1996) concluded that the CpG island just proximal to the translocation breakpoint of their patient lies at the 5-prime end of a candidate gene for EDA. </p><p>Kere et al. (1996) reported the positional cloning of the EDA1 gene. From an adult sweat gland cDNA library, they identified a single cDNA representing a full-length transcript composed of 2 exons. The putative gene product was a 135-residue protein (isoform I) predicted to contain a single transmembrane domain. The gene was expressed in keratinocytes, hair follicles, sweat glands, and in other adult and fetal tissues. The authors suggested that the predicted EDA protein may belong to a novel class with a role in epithelial-mesenchymal signaling. In several patients with EDA, Kere et al. (1996) identified deletions and mutations in the EDA1 gene (see MOLECULAR GENETICS). Kere et al. (1996) and Ferguson et al. (1997) speculated that, since mutations in exon 1 could be identified in only 10 to 15% of families with EDA, it was likely that additional homologous exons existed. </p><p>Cloning of the murine homolog by Srivastava et al. (1997) and Ferguson et al. (1997) (see below) allowed the identification of a second putative isoform of the EDA1 protein (isoform II) in humans. This EDA1 cDNA was predicted to encode a 391-residue protein, of which 256 amino acids were encoded by the 'new' exons. The putative protein is 94% identical to the mouse homolog and includes a collagen-like domain with 19 repeats of a Gly-X-Y motif in the presumptive extracellular domain (Monreal et al., 1998). </p><p>Srivastava et al. (1997) cloned the mouse 'Tabby' (Ta) gene and identified 3 different transcript isoforms encoding proteins of 391, 177, and 220 amino acids. All shared the same exon 1, which showed 88% homology with the first 132 amino acids of human EDA. The predicted molecular mass of the 392-amino acid Ta form was 41.6 kD. Reciprocal comparative analysis of EDA and Ta sequences led to extension of the known span of the human gene. Srivastava et al. (1997) confirmed that the Ta gene was mutated in 2 independent Tabby mouse strains. They demonstrated that the gene was expressed in developing teeth and epidermis and found no expression in corresponding tissues from mutant Tabby mice. The authors suggested that the isoforms of ectodysplasin-A may correlate with differential roles during embryonic development. </p><p>Ferguson et al. (1997) identified a candidate cDNA for the mouse Ta gene, which, based on phenotype and syntenic mapping, was postulated to represent the murine equivalent of EDA. They found that the murine cDNA also encoded an additional 246 amino acids, which contained a short collagenous domain (Gly-X-Y)19. This predicted structure was similar to a number of membrane-associated proteins with either single or multiple collagenous domains in the extracellular C-terminal regions. Northern blot analysis showed that the gene was expressed at increasing levels during embryogenesis (11-17 days p.c.), the period when affected structures develop. </p><p>Bayes et al. (1998) constructed a complete splicing map of the EDA gene and characterized the longest and what probably represents the full-length EDA transcript, EDA-A, which encodes the 391-amino acid transmembrane protein. They also detected 4 new transcripts that coded for truncated proteins lacking the collagenous domain. The splice variants showed different expression patterns in 8 tissues analyzed, suggesting a regulatory mechanism for gene expression. Bayes et al. (1998) found that the full-length form of the protein is transported to the cell membrane and induces rounding of the cells, properties also associated with the 135-amino acid isoform. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>Monreal et al. (1998) and Bayes et al. (1998) established the genomic structure of the EDA gene. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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<p>Ezer et al. (1999) showed that the sequence of the longest isoform encoded by the EDA gene includes an interrupted collagenous domain of 19 Gly-X-Y repeats and a motif conserved in the tumor necrosis factor (TNF)-related ligand family (see 604052). They found that ectodysplasin is a trimeric type II membrane protein that colocalizes with cytoskeletal structures at the lateral and apical surfaces of cells. These findings suggested that ectodysplasin is a novel member of the TNF-related ligand family involved in the early epithelial-mesenchymal interaction that regulates ectodermal appendage formation. </p><p>Yan et al. (2000) found that the EDA-A1 isoform encodes a 391-residue protein with a domain similar to TNF at the C terminus. EDA-A1 specifically binds 'downless,' also known as EDAR (604095). An alternate transcript of EDA encodes a protein that is identical to EDA-A1 except for the deletion of 2 amino acids, glu308 and val309. This isoform is designated EDA-A2, and Yan et al. (2000) found that it exclusively binds to XEDAR (300276), an X-linked ectodysplasin receptor. EDA-A2 expression was concentrated in the central core of developing hair follicles in mice, whereas EDA-A1 expression was circumferential. Expression of EDA-A1 bound to EDAR was found at embryonic day 14 in the basal cells of developing epidermis, with elevated focal expression in placodes. Expression of EDA-A2 bound to XEDAR was barely discernible at this stage; however, by embryonic days 16 and 17, both receptors were expressed in large amounts in the maturing follicles. By postnatal day 1, the pattern of expression was confined to the hair follicles. </p><p>Chen et al. (2001) demonstrated that XHED is one of the few examples of a heritable disorder associated with failure of furin (136950) processing sites. The stalk region in the C terminus of the EDA molecule contains the sequence -arg-val-arg-arg156-asn-lys-arg159-, representing overlapping consensus cleavage sites (arg-X-lys/arg-arg) for the proprotein convertase furin. Missense mutations in 4 of the 5 basic residues within this sequence account for approximately 20% of all known XHED cases, with mutations occurring most frequently at arg156, which is shared by the 2 consensus furin sites. See 300451.0005, 300451.0006, and 300451.0007. The analyses of Chen et al. (2001) suggested that cleavage at the furin site(s) in the stalk region is required for the ectodysplasin-mediated cell-to-cell signaling that regulates the morphogenesis of ectodermal appendages. They showed that the 50-kD EDA parent molecule is cleaved at -arg156-asn-lys-arg159- to release the soluble C-terminal fragment containing the TNF core domain. This cleavage appeared to be catalyzed by furin, as release of the TNF domain was blocked either by expression of the furin inhibitor or by expression of EDA in furin-deficient cells. Thus, mutation of a functional furin cleavage site in the developmental signaling molecule is a basis for XHED and raises the possibility that furin cleavage may regulate the ability of EDA to act as a juxtacrine or paracrine factor. </p><p>Elomaa et al. (2001) confirmed the findings of Chen et al. (2001). They further demonstrated that EDAR coprecipitated with ectodysplasin, confirming that they form a ligand-receptor pair. In situ hybridization and immunostaining studies showed that ectodysplasin and EDAR are expressed in adjacent or partially overlapping layers in the developing human skin. The authors concluded that as a soluble ligand ectodysplasin can interact with EDAR and mediate signals needed for the development of ectodermal appendages. </p><p>To elucidate the function of ED1 in pathways regulating ectodermal development, Durmowicz et al. (2002) analyzed promoter elements of the ED1 gene, which they called EDA. Using electrophoretic mobility shift assays and cotransfection studies, Durmowicz et al. (2002) demonstrated that lymphoid enhancer-binding factor-1 (LEF1; 153245) specifically binds the ED1 promoter, and that LEF1 and beta-catenin (116806) are necessary for full activation of ED1 gene expression. Also, inhibition of glycogen synthase kinase-3B (GSK3B; 605004), which stabilizes excess beta-catenin, stimulates transcription from the ED1 promoter. Durmowicz et al. (2002) concluded that the ED1 gene is a target of Wnt signaling. Using transfection experiments, they found no evidence for feedback signaling of ED1 on Lef1 and beta-catenin. </p><p>EDA-A1 and EDA-A2, the most common and longest EDA splice isoforms, activate NF-kappa-B-promoted transcription by binding to distinct receptors: EDAR and XEDAR. The extent to which any particular isoform is sufficient for the formation of hair, sweat glands, or teeth had been unclear. Srivastava et al. (2001) reported that transgenic expression of the mouse EDA-A1 isoform in Tabby males rescued development of several skin appendages. The transgenic Tabby mice showed almost complete restoration of hair growth, dermal ridges, sweat glands, and molars. The number of hair follicles in the transgenic mice is the same as in wildtype, although the development of follicles and associated glands varies from indistinguishable from wildtype to smaller and/or only partially formed. These results suggested that the other EDA isoforms may not be absolutely required for skin appendage formation but, consistent with distinctive temporal and spatial expression of the EDA-A2 isoform, are likely required for appropriate timing and completeness of development. These data provided direct physiologic evidence that EDA-A1 is a key regulator of hair follicle and sweat gland initiation; its soluble ligand form could aid in deriving therapeutic reagents for conditions affecting hair and sweat gland formation. </p><p>To analyze EDA pathways, Cui et al. (2002) used expression profiling on 15,000-gene mouse cDNA microarrays, comparing adult mouse skin from wildtype, EDA-defective (Tabby) mice, and Tabby mice supplemented with the EDA-A1 isoform, which is sufficient to rescue multiple Tabby phenotypes. Given the sensitivity of the microarray system, 8,500 genes (60%) were estimated to be expressed, including transcription factors and growth-regulatory genes that had not previously been identified in skin; however, only 24 (0.16%), one-third of them novel, showed significant differences between wildtype and Tabby. An additional 8 genes not included in the 15,000-gene set were shown to have expression differences by real-time RT-PCR. Sixteen of 32 affected genes were restored significantly toward wildtype levels in EDA-A1 transgenic Tabby mice. Significant upregulation in Tabby skin was observed for several dermal matrix genes, including Col1a1 (120150), Col1a2 (120160), Col3a1 (120180), and Sparc (182120). In contrast, downregulation occurred for the NEMO (300248)/NF-kappa-B (164011) pathway, already implicated in skin appendage formation, and even more markedly for a second pathway, JNK (601158)/c-jun (165160)/c-fos (164810) and their target genes, that had not previously been clearly associated with skin development. The authors concluded that EDA has a regulatory role in both the NF-kappa-B and JNK pathways. </p><p>Cui et al. (2003) conditionally expressed ED1 isoforms as tetracycline-regulated transgenes in Tabby and wildtype mice. Expression of only the EDA-A1 transgene had determinative effects on sweat glands and hair follicles, as well as trophic effects on sebaceous and Meibomian glands. The phenotypic effects of EDA-A1 on sebaceous glands, but not on hair follicles, were reversed when the gene was repressed in adult animals. Cui et al. (2003) proposed both initiating and trophic isoform-specific effects of the EDA gene, and suggested a possible balance of isoform interactions in skin appendage formation. </p><p>The EDA1 protein, acting through EDAR, is essential for proper formation of skin appendages. EDA1 must be proteolytically processed to a soluble form to be active. Gaide and Schneider (2003) showed that treatment of pregnant Tabby mice with a recombinant form of EDA1, engineered to cross the placental barrier, permanently rescued the Tabby phenotype in the offspring. Notably, sweat glands can also be induced by EDA1 after birth. This was said to be the first example of a developmental genetic defect that can be permanently corrected by short-term treatment with the recombinant protein. </p><p>By comparative transcription profiling of embryonic skin during hair follicle development in wildtype and Tabby mice, Cui et al. (2006) found Eda regulated proteins involved in 4 signaling pathways. These included Shh (600725) in the hedgehog signaling pathway, Dkk4, (605417) in the Wnt signaling pathway, Sostdc1 (609675) in the BMP pathway, and Ltb (600978) in the NFKB (see 164011) signaling pathway. Ltb was enriched in developing hair follicles of wildtype but not Tabby mice. In mice lacking Ltb, all 3 types of mouse hairs were formed, but they were structurally abnormal. Cui et al. (2006) concluded that Ltb regulates the form of hair in developing hair follicles and failure of Ltb activation can account for part of the Tabby phenotype. </p><p>Kunisada et al. (2009) compared Tabby mice, in which sweat glands are not formed, with wildtype mice. Consistent with a controlled morphologic progression, expression profiling revealed stage-specific gene expression changes. Similar to the development of hair follicles, which are the other major skin appendage controlled by EDA, sweat gland induction and initial progression were accompanied by Eda-dependent upregulation of the Shh pathway. During the further development of sweat gland secretory portions, Foxa1 (602294) and Foxi1 (601093), which are not at all expressed in hair follicles, were progressively upregulated in wildtype but not in Tabby footpads. Upon completion of wildtype development, Shh declined to low levels seen in Tabby mice, but Fox family genes remained at elevated levels in mature sweat glands. </p><p>Harjunmaa et al. (2012) reported that mouse tooth complexity can be increased substantially by adjusting multiple signaling pathways simultaneously. Harjunmaa et al. (2012) cultured teeth in vitro and adjusted ectodysplasin (EDA), activin A (see 147290), and SHH pathways, all of which are individually required for normal tooth development. The authors quantified tooth complexity using the number of cusps and a topographic measure of surface complexity, and found that whereas activation of EDA and activin A signaling and inhibition of SHH signaling individually cause subtle to moderate increases in complexity, cusp number is doubled when all 3 pathways are adjusted in unison. Furthermore, the increase in cusp number does not result from an increase in tooth size, but from an altered primary patterning phase of development. The combination of a lack of complex mutants, the paucity of natural variants with complex phenotypes, and their results of greatly increased dental complexity using multiple pathways, suggests that an increase may be inherently different from a decrease in phenotypic complexity. </p>
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<h4>
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<span class="mim-font">
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<strong>Evolution</strong>
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<span class="mim-text-font">
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<p>Kangas et al. (2004) reported that developmentally most dental characters may be nonindependent. The authors investigated how 3 different levels of the cell signaling protein ectodysplasin (Eda) changed dental characters in mouse. They found that with increasing expression levels of Eda, the number of cusps increased, cusp shapes and positions changed, longitudinal crests formed, and number of teeth increased. The consistent modification of characters related to lateral placement of cusps could be traced to a small difference in the formation of an early signaling center at the onset of tooth crown formation. Kangas et al. (2004) concluded that most aspects of tooth shape have the developmental potential for correlated changes during evolution which may, if not taken into account, obscure phylogenetic history. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p><strong><em>Hypohidrotic Ectodermal Dysplasia 1, X-Linked</em></strong></p><p>
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Kere et al. (1996) found that the EDA1 gene was disrupted in 6 hypohidrotic ectodermal dysplasia (XHED, ECTD1; 305100) patients with X/autosome translocations or submicroscopic deletions; 9 patients had point mutations (see, e.g., 300451.0001). The authors noted that mutations were detected in only one-tenth of the patients studied. </p><p>In 162 affected males and 21 females who were either obligate carriers or had manifestations of EDA, Ferguson et al. (1998) screened the 2 known exons of the ED1 gene. Approximately 7% of patients, all males, had putative mutations identified within exon 1 (see, e.g., 300451.0003), but no variants were found within exon 2. No correlation between phenotype and genotype was evident between either affected subjects or subjects with or without detectable mutations. The authors concluded that the remainder of the patients were likely to have mutations in as yet unidentified exons of the EDA gene. </p><p>In 17 of 18 families with X-linked hypohidrotic ectodermal dysplasia, Monreal et al. (1998) identified mutations in the EDA1 gene, including 12 missense, 1 nonsense, and 4 deletion mutations (see, e.g., 300451.0005-300451.0010 and 300451.0023). The results suggested that EDA1 isoform II plays a critical role in tooth, hair, and sweat gland morphogenesis, whereas the biologic significance of isoform I remained unclear. </p><p>In 12 of 15 EDA patients, Bayes et al. (1998) identified mutations in the EDA1 gene. Three mutations removed either 2 or 4 of the Gly-X-Y repeats without interrupting the reading frame, thus suggesting a functional role for the collagenous domain. Kobielak et al. (2001) identified mutations in the EDA gene, 2 of which were novel. Despite a different character and localization of the mutations, no apparent correlation between phenotype and genotype was found. Using SSCA and direct sequencing, Vincent et al. (2001) screened 52 unrelated XHED patients (42 familial and 10 sporadic cases) for mutations in the entire coding sequence of the EDA gene. A total of 34 mutated alleles (65%) were detected, including 22 different mutations, 14 of which were novel. The missense mutations arg155 to cys (R155C; 300451.0005), arg156 to cys (R156C; 300451.0006), and arg156 to his (R156H; 300451.0007), affecting CpG dinucleotides in exon 3, represented 35% of the mutated alleles. Review of the clinical features showed no obvious genotype/phenotype correlation. An inter- and intrafamilial variability of clinical expression in male patients was noticed. The X-inactivation pattern in leukocytes demonstrated a weak (if any) correlation with the severity of the disease in female carriers. Only 2 proven female carriers (8%) among the 26 examined showed no clinical sign. Combined with previous mutation reports, the authors tabulated a total of 56 different mutations (48 point mutations, including small deletions and insertions, and 8 larger deletions) reported in 85 independent patients. Mutations were distributed in all but exons 2 and 4. Whereas mutations in exons 3 and 8 are missense mutations, most of the mutations in exon 5 are deletions or insertions, probably due to the repetitive nature of this region favoring polymerase slippage. </p><p>Visinoni et al. (2003) tabulated 64 different mutations in the EDA gene that had been related to X-linked ectodermal dysplasia. </p><p>In affected members of a Han Chinese family with X-linked hypohidrotic ectodermal dysplasia, Huang et al. (2006) identified a de novo 1-bp insertion in exon 4 of the EDA gene (300451.0016). The authors stated that this was the first de novo insertion identified in the EDA gene. </p><p>Lexner et al. (2008) identified 16 different mutations in the EDA gene in 19 Dutch families with X-linked HED. Nine of the mutations were novel. In addition, multiplex ligation-dependent probe amplification (MLPA) analysis detected a deletion in exon 1. There were no genotype/phenotype correlations. </p><p>Ferrier et al. (2009) reported father-to-son transmission of XHED by sex chromosome heterodisomy (300451.0019). </p><p>In a Pakistani man with severe generalized hyperkeratosis who was originally diagnosed with Lelis syndrome (608290), van Steensel and van der Hout (2009) analyzed the EDA gene and identified the R156H (300451.0007) mutation. The authors suggested that Lelis syndrome may be a manifestation of X-linked HED. </p><p>Schneider et al. (2018) administered a recombinant fusion protein, Fc-EDA, consisting of the receptor-binding domain of EDA and the Fc domain of human IgG1, intraamniotically to an affected pair of twin male fetuses and an unrelated male fetus. The infants were able to sweat normally and XLHED-related illness had not developed by 14 to 22 months of age. </p><p><strong><em>X-Linked Hypodontia</em></strong></p><p>
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Tao et al. (2006) identified a mutation in the EDA gene (300451.0014) in affected members of a Mongolian family with selective tooth agenesis (STHAGX1; 313500). Tarpey et al. (2007) identified a mutation in the EDA gene (300451.0015) in an Indian family with X-linked hypodontia affecting the incisors. </p><p>In 4 affected males and 1 affected female carrier from a Chinese family with congenital hypodontia, Han et al. (2008) identified a mutation in the EDA gene (T338M; 300451.0018). </p><p>In 15 unrelated Chinese men with selective tooth agenesis, Song et al. (2009) sequenced the EDA gene and identified 4 patients with missense mutations: A259E (300451.0020) in 2 of the patients, and R289C (300451.0021) and R334H (300451.0022) in 1 each. None of the mutations were found in 60 Chinese female controls. </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Shen et al. (2016) analyzed 6 mutations in the EDA gene, including the nonsyndromic tooth agenesis (STHAGX1)-associated variants A259E, R289C, R334H, and S374R, and 2 XHED-associated changes, H252L (300451.0023) and Y343C. The binding of all 4 STHAGX1-associated EDA proteins to the receptor EDAR was variably reduced compared to wildtype, whereas the 2 XHED-associated proteins showed complete loss of receptor-binding capability. Binding to the ectodysplasin A2 receptor (XEDAR) was also variably reduced with the tooth agenesis-associated proteins, and both XHED-causing mutants retained residual binding to XEDAR. Nuclear translocation of the NFKB subunit p65 (RELA; 164014) in the epithelium-derived ameloblast cell line LS8 was significantly reduced with all 6 EDA mutants compared to wildtype, and it was significantly more decreased in the XHED-causing mutants than in those associated with nonsyndromic tooth agenesis. Dual luciferase assay confirmed the impairment of transcriptional activation of NFKB by all 6 mutant proteins compared to wildtype EDA, with no significant difference observed between the STHAGX1- or XHED-associated mutants. RT-PCR analysis in transfected LS8 cells demonstrated significantly increased expression of BMP4 (112262) with the mutants compared to wildtype, and BMP4 expression was significantly more increased with the XHED-associated mutations than with the STHAGX1-associated mutations. In contrast, WNT10A (606268) expression was significantly downregulated by all 6 EDA mutants compared to wildtype EDA, and WNT10B (601906) expression was significantly downregulated by the XHED-associated mutants. Shen et al. (2016) suggested that EDA mutations associated with nonsyndromic tooth agenesis attenuate signaling through the NFKB pathway rather than completely blocking it, as occurs in XHED. </p>
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<strong>Animal Model</strong>
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<p>Casal et al. (2007) studied a canine model of XHED. Dogs have dentition similar to that in humans with respect to development and morphology of teeth. Also, clinical signs in humans and dogs with XHED are virtually identical, whereas several are missing in the murine equivalent. Casal et al. (2007) found that in the dog model the genetically missing EDA was compensated for by postnatal intravenous administration of soluble recombinant EDA. Untreated XHED dogs had an incomplete set of conically shaped teeth similar to those seen in human patients with XHED. After treatment with EDA, significant normalization of adult teeth was achieved in 4 of 5 XHED dogs. Moreover, treatment restored normal lacrimation and resistance to eye and airway infections and improved sweating ability. The results not only provided proof of concept for a potential treatment of this disorder but also demonstrated an essential role of EDA in the development of secondary dentition. </p>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>23 Selected Examples):</strong>
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<h4>
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<span class="mim-font">
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<strong>.0001 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
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EDA, TYR61HIS
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SNP: rs132630308,
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ClinVar: RCV000011778, RCV000763629
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<p>In a family with X-linked hypohidrotic ectodermal dysplasia (XHED, ECTD1; 305100) from the United Kingdom, Kere et al. (1996) identified a tyr61-to-his mutation in a novel transmembrane protein resulting from a T-to-C transition at nucleotide 423. This was 1 of 9 point mutations identified in patients with this disorder. </p>
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<span class="mim-font">
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<strong>.0002 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
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</span>
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|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, ARG69LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs132630309,
|
|
|
|
|
|
gnomAD: rs132630309,
|
|
|
|
|
|
ClinVar: RCV000011779, RCV000218834, RCV000432524, RCV003894799
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with X-linked hypohidrotic ectodermal dysplasia (XHED, ECTD1; 305100) from the United Kingdom and another from the U.S., Kere et al. (1996) found an association between EDA and a point mutation, a G-to-T transversion at nucleotide 448 resulting in an arg69-to-leu amino acid substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, GLN23TER
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|
|
|
|
<br />
|
|
|
|
SNP: rs132630310,
|
|
|
|
|
|
|
|
ClinVar: RCV000011780, RCV004786252
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>One of the relatively few EDA (305100) mutations found by Ferguson et al. (1998) in patients with XHED was a 366C-T transition resulting in a gln23-to-ter nonsense mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, GLU63LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs132630311,
|
|
|
|
|
|
|
|
ClinVar: RCV000011781
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>One of the relatively few EDA (305100) mutations found by Ferguson et al. (1998) in patients with XHED was a 429G-A transition resulting in a glu63-to-lys amino acid substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, ARG155CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs132630312,
|
|
|
|
|
|
|
|
ClinVar: RCV000011782, RCV000254983, RCV000763630
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with XHED (305100), Monreal et al. (1998) found a 704C-T transition in exon 3 of the EDA gene, causing an arg155-to-cys amino acid substitution in isoform II of the EDA protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, ARG156CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs132630313,
|
|
|
|
|
|
|
|
ClinVar: RCV000011783, RCV000414306, RCV003390668
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with XHED (305100), Monreal et al. (1998) found a 707C-T transition in exon 3 of the EDA gene, predicted to result in an arg156-to-cys amino acid substitution in isoform II of the EDA protein. This was a de novo mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, ARG156HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs132630314,
|
|
|
|
|
|
|
|
ClinVar: RCV000032612, RCV000255365, RCV002490354
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with XHED (305100), Monreal et al. (1998) found a 708G-A transition in exon 3 of the EDA gene, resulting in an arg156-to-his amino acid substitution in isoform II of the EDA protein. </p><p>In a study of 52 unrelated patients with XHED, Vincent et al. (2001) detected the R156H mutation in 9 patients. Haplotype analysis using markers closely flanking the EDA gene and 2 intragenic polymorphisms demonstrated that R156H, R155C (300451.0005), and R156C (300451.0006) arose independently. The mutation appeared de novo in 3 of the cases. </p><p>In a Pakistani man with severe generalized hyperkeratosis who was originally diagnosed with Lelis syndrome (608290), van Steensel and van der Hout (2009) analyzed the EDA gene and identified the R156H mutation. The authors suggested that Lelis syndrome may be a manifestation of X-linked HED. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, PRO209LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs132630315,
|
|
|
|
|
|
|
|
ClinVar: RCV000011785, RCV000154610
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with XHED (305100), Monreal et al. (1998) found an 867C-T transition in exon 5, predicted to result in a pro209-to-leu amino acid substitution in isoform II of the EDA protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, GLY224ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs132630316,
|
|
|
|
|
|
|
|
ClinVar: RCV000011786
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with XHED (305100), Monreal et al. (1998) found a 912G-C transversion in exon 5 of the EDA gene, predicted to result in a gly224-to-ala amino acid substitution in isoform II of the EDA protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, ALA349THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs132630317,
|
|
|
|
|
|
|
|
ClinVar: RCV000011787, RCV000255050
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 apparently unrelated families, Monreal et al. (1998) found that males with XHED (305100) had a 1285G-A transition in exon 9 of the EDA gene, predicted to result in an ala349-to-thr amino acid substitution in isoform II of the EDA protein. Since in 1 of these families the affected male represented a de novo mutation, the 2 families were almost certainly not related. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, TYR61TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs132630318,
|
|
|
|
|
|
|
|
ClinVar: RCV000011788
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with EDA (305100), Yotsumoto et al. (1998) found a change of codon 61 from TAC (tyr) to TAG (stop). This nonsense mutation (tyr61 to ter) occurred in the same codon, located on the most extracellular end of the transmembrane domain, as that involved in the relatively frequent Y61H missense mutation (300451.0001). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, 36-BP DEL, EX5
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000011789
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 1 of 4 Brazilian families with XHED (305100), Visinoni et al. (2003) described a 36-bp deletion in exon 5 responsible for the loss of 4 Gly-X-Y repeats of the collagen subdomain of ectodysplasin A. The deletion had already been reported in 8 other families. Seven different breakpoints can lead to the same deletion result. The mutational process leading to the deletion may vary in the reported families. The experience indicates the importance of the Gly-X-Y repeats of the collagen subdomain in the function of ectodysplasin A (Bayes et al., 1998). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, 1-BP DEL, EX6
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000011790
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 1 of 4 Brazilian families with XHED (305100), Visinoni et al. (2003) described a guanine deletion at exon 6 of the EDA gene (either 966 or 967 site) that altered ectodysplasin A after amino acid 241 and led to a premature ending at amino acid 279. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, ARG65GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs132630319,
|
|
|
|
|
|
|
|
ClinVar: RCV000011791
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Mongolian family segregating X-linked isolated congenital hypodontia (STHAGX1; 313500), Tao et al. (2006) identified a 193C-G transversion in exon 1 of the EDA gene, resulting in an arg65-to-gly (R65G) substitution in the juxtamembrane region of the protein, in all affected males and carrier females. The mutation was not found in 90 unrelated normal Han Chinese individuals. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, GLN358GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs132630320,
|
|
|
|
|
|
|
|
ClinVar: RCV000011792
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected individuals from a large Indian family with X-linked hypodontia (STHAGX1; 313500), Tarpey et al. (2007) identified a 1072C-G transversion in exon 8 of the EDA gene, resulting in a gln358-to-glu (Q358E) substitution. The residue is completely conserved in all species observed, but is predicted to only partially disrupt protein function, consistent with the unique hypodontia phenotype. Most patients had absence of all mandibular incisors and maxillary lateral incisors with maxillary central incisors missing in some cases. Both primary and permanent dentition were affected. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, 1-BP INS, 573T
|
|
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<br />
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SNP: rs1569404873,
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ClinVar: RCV000011793
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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 2 Han Chinese brothers with X-linked hypohidrotic ectodermal dysplasia (305100) and their unaffected mother, Huang et al. (2006) identified a 1-bp insertion (573insT) in exon 4 of the EDA gene. The mutation was not found in the maternal grandparents or in 200 controls. The authors stated that this was the first de novo insertion identified in the EDA gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, 2-BP INS, 913TA
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<br />
|
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|
|
SNP: rs1569406514,
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|
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|
|
ClinVar: RCV000011794
|
|
|
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|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
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<span class="mim-text-font">
|
|
<p>In a boy with X-linked hypohidrotic ectodermal dysplasia (305100), Schneider and Muhle (2009) identified 2-bp insertion (913insTA) in exon 8 of the EDA gene, resulting in a frameshift and premature termination. His unaffected mother was heterozygous for the mutation. Sequence analysis indicated that the insertion represented a TA repeat expansion that was likely susceptible to slipped-strand mispairing during DNA replication. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, THR338MET
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|
|
<br />
|
|
|
|
SNP: rs132630321,
|
|
|
|
|
|
gnomAD: rs132630321,
|
|
|
|
|
|
ClinVar: RCV000011795, RCV001205829, RCV005049332
|
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|
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|
|
</span>
|
|
</div>
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 affected males from a Chinese family with congenital hypodontia (STHAGX1; 313500), Han et al. (2008) identified a hemizygous 1013C-T transition in exon 8 of the EDA gene, resulting in a thr338-to-met (T338M) substitution that changes the residue from hydrophilic to hydrophobic and is predicted to cause a conformational change affecting the stability of the homotrimer. The mutation was found in 6 female carriers, including 1 affected female with missing lateral incisors, but not in unaffected family members, and was not found in 120 control chromosomes. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, ARG276CYS
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|
|
<br />
|
|
|
|
SNP: rs387907197,
|
|
|
|
|
|
|
|
ClinVar: RCV000024599, RCV000626808, RCV002262574
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy and his affected father with X-linked hypohidrotic ectodermal dysplasia (XHED; 305100), Ferrier et al. (2009) detected hemizygosity for an 826C-T transition in exon 7, resulting in an arg276-to-cys (R276C) substitution. Results of analysis of polymorphic X chromosome markers were consistent with paternal inheritance of the X chromosome. Family history revealed an affected paternal great-great uncle, a male first cousin once removed, and 2 male second cousins. Analysis of the EDA gene in the 2 second cousins showed hemizygosity for the R276 mutation, which was inherited from their carrier mother. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, ALA259GLU
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs879255611,
|
|
|
|
|
|
|
|
ClinVar: RCV000239463
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated Chinese men with selective tooth agenesis (STHAGX1; 313500), Song et al. (2009) identified a c.776C-A transversion in exon 6 of the EDA gene, resulting in an ala259-to-glu (A259E) substitution at a residue on the outer surface of the homotrimer. The mutation was shown to have arisen de novo in 1 of the patients, and was not found in 60 Chinese female controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, ARG289CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs879255551,
|
|
|
|
|
|
|
|
ClinVar: RCV000239506, RCV000692210
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Chinese man with selective tooth agenesis (STHAGX1; 313500), Song et al. (2009) identified a c.865C-T transition in exon 7 of the EDA gene, resulting in an arg289-to-cys (R289C) substitution at a residue on the outer surface of the homotrimer. His unaffected mother carried the mutation, which was not found in 60 Chinese female controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, ARG334HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs142948132,
|
|
|
|
|
|
gnomAD: rs142948132,
|
|
|
|
|
|
ClinVar: RCV000239557, RCV000864637, RCV001573758, RCV002252063, RCV002494688
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Chinese man with selective tooth agenesis (STHAGX1; 313500), Song et al. (2009) identified a c.1001G-A transition in exon 8 of the EDA gene, resulting in an arg334-to-his (R334H) substitution at the monomer-monomer interface. His unaffected mother carried the mutation, which was not found in 60 Chinese female controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EDA, HIS252LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs879255552,
|
|
|
|
|
|
|
|
ClinVar: RCV000239466
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with X-linked hypohidrotic ectodermal dysplasia (XHED; 305100), Monreal et al. (1998) identified heterozygosity for a 986A-T transversion in exon 7 of the EDA gene, resulting in a his252-to-leu (H252L) substitution in isoform II of the EDA protein. The mutation was not found in 60 control X chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bayes, M., Hartung, A. J., Ezer, S., Pispa, J., Thesleff, I., Srivastava, A. K., Kere, J.
|
|
<strong>The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.</strong>
|
|
Hum. Molec. Genet. 7: 1661-1669, 1998.
|
|
|
|
|
|
[PubMed: 9736768]
|
|
|
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|
|
[Full Text: https://doi.org/10.1093/hmg/7.11.1661]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Casal, M. L., Lewis, J. R., Mauldin, E. A., Tardivel, A., Ingold, K., Favre, M., Paradies, F., Demotz, S., Gaide, O., Schneider, P.
|
|
<strong>Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia.</strong>
|
|
Am. J. Hum. Genet. 81: 1050-1056, 2007.
|
|
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|
|
|
[PubMed: 17924345]
|
|
|
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|
|
[Full Text: https://doi.org/10.1086/521988]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, Y., Molloy, S. S., Thomas, L., Gambee, J., Bachinger, H. P., Ferguson, B., Zonana, J., Thomas, G., Morris, N. P.
|
|
<strong>Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.</strong>
|
|
Proc. Nat. Acad. Sci. 98: 7218-7223, 2001.
|
|
|
|
|
|
[PubMed: 11416205]
|
|
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|
|
|
[Full Text: https://doi.org/10.1073/pnas.131076098]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cui, C.-Y., Durmowicz, M., Ottolenghi, C., Hashimoto, T., Griggs, B., Srivastava, A. K., Schlessinger, D.
|
|
<strong>Inducible mEDA-A1 transgene mediates sebaceous gland hyperplasia and differential formation of two types of mouse hair follicles.</strong>
|
|
Hum. Molec. Genet. 12: 2931-2940, 2003.
|
|
|
|
|
|
[PubMed: 14506134]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddg325]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cui, C.-Y., Durmowicz, M., Tanaka, T. S., Hartung, A. J., Tezuka, T., Hashimoto, K., Ko, M. S. H., Srivastava, A. K., Schlessinger, D.
|
|
<strong>EDA targets revealed by skin gene expression profiles of wild-type, Tabby and Tabby EDA-A1 transgenic mice.</strong>
|
|
Hum. Molec. Genet. 11: 1763-1773, 2002.
|
|
|
|
|
|
[PubMed: 12095918]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/11.15.1763]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cui, C.-Y., Hashimoto, T., Grivennikov, S. I., Piao, Y., Nedospasov, S. A., Schlessinger, D.
|
|
<strong>Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation.</strong>
|
|
Proc. Nat. Acad. Sci. 103: 9142-9147, 2006.
|
|
|
|
|
|
[PubMed: 16738056]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0509678103]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Durmowicz, M. C., Cui, C.-Y., Schlessinger, D.
|
|
<strong>The EDA gene is a target of, but does not regulate Wnt signaling.</strong>
|
|
Gene 285: 203-211, 2002.
|
|
|
|
|
|
[PubMed: 12039047]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0378-1119(02)00407-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Elomaa, O., Pulkkinen, K., Hannelius, U., Mikkola, M., Saarialho-Kere, U., Kere, J.
|
|
<strong>Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.</strong>
|
|
Hum. Molec. Genet. 10: 953-962, 2001.
|
|
|
|
|
|
[PubMed: 11309369]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/10.9.953]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ezer, S., Bayes, M., Elomaa, O., Schlessinger, D., Kere, J.
|
|
<strong>Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells.</strong>
|
|
Hum. Molec. Genet. 8: 2079-2086, 1999.
|
|
|
|
|
|
[PubMed: 10484778]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/8.11.2079]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ferguson, B. M., Brockdorff, N., Formstone, E., Ngyuen, T., Kronmiller, J. E., Zonana, J.
|
|
<strong>Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain.</strong>
|
|
Hum. Molec. Genet. 6: 1589-1594, 1997.
|
|
|
|
|
|
[PubMed: 9285798]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/6.9.1589]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ferguson, B. M., Thomas, N. S. T., Munoz, F., Morgan, D., Clarke, A., Zonana, J.
|
|
<strong>Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.</strong>
|
|
J. Med. Genet. 35: 112-115, 1998.
|
|
|
|
|
|
[PubMed: 9507389]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.35.2.112]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ferrier, R. A., Lowry, R. B., Lemire, E. G., Stoeber, G. P., Howard, J., Parboosingh, J. S.
|
|
<strong>Father-to-son transmission of an X-linked gene: a case of paternal sex chromosome heterodisomy (Letter)</strong>
|
|
Am. J. Med. Genet. 149A: 2871-2873, 2009.
|
|
|
|
|
|
[PubMed: 19921643]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.32994]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gaide, O., Schneider, P.
|
|
<strong>Permanent correction of an inherited ectodermal dysplasia with recombinant EDA.</strong>
|
|
Nature Med. 9: 614-618, 2003.
|
|
|
|
|
|
[PubMed: 12692542]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nm861]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Han, D., Gong, Y., Wu, H., Zhang, X., Yan, M., Wang, X., Qu, H., Feng, H., Song, S.
|
|
<strong>Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis.</strong>
|
|
Europ. J. Med. Genet. 51: 536-546, 2008.
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