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<title>
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Entry
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- #313500 - TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1
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- OMIM
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<span class="h4">#313500</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS106600"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14371&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99798" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050591" 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="http://www.informatics.jax.org/disease/313500" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050591" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 99798<br />
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<strong>DO:</strong> 0050591<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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313500
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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HYPODONTIA/OLIGODONTIA, X-LINKED, 1
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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<th>
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Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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|
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/X/387?start=-3&limit=10&highlight=387">
|
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Xq13.1
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Tooth agenesis, selective, X-linked 1
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/313500"> 313500 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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|
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<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
EDA
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/300451"> 300451 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
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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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|
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/313500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
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|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS106600" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/313500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/313500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
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|
|
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</span>
|
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</div>
|
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|
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</div>
|
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|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Oligodontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/787414001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">787414001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4082304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4082304</a>, <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000677</a>]</span><br /> -
|
|
Hypodontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the ectodysplasin A gene (EDA, <a href="/entry/300451#0014">300451.0014</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Tooth agenesis, selective
|
|
- <a href="/phenotypicSeries/PS106600">PS106600</a>
|
|
- 10 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1834?start=-3&limit=10&highlight=1834"> 1q43 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617275"> Tooth agenesis, selective, 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617275"> 617275 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608832"> GREM2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608832"> 608832 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1021?start=-3&limit=10&highlight=1021"> 2q35 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150400"> Tooth agenesis, selective, 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150400"> 150400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606268"> WNT10A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606268"> 606268 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/63?start=-3&limit=10&highlight=63"> 4p16.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/106600"> Tooth agenesis, selective, 1, with or without orofacial cleft </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/106600"> 106600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142983"> MSX1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142983"> 142983 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/155?start=-3&limit=10&highlight=155"> 10q11.2-q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610926"> Tooth agenesis, selective, 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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<a href="/entry/616724"> Tooth agenesis, selective, 7 </a>
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<a href="/entry/604625"> Tooth agenesis, selective, 3 </a>
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<a href="/entry/620173"> 620173 </a>
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<a href="/entry/612920"> TSPEAR </a>
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<a href="/entry/313500"> Tooth agenesis, selective, X-linked 1 </a>
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<a href="/entry/313500"> 313500 </a>
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<a href="/entry/300451"> EDA </a>
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<a href="/entry/300451"> 300451 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that X-linked selective tooth agenesis-1 (STHAGX1) is caused by mutation in the gene encoding ectodysplasin A (EDA; <a href="/entry/300451">300451</a>) on chromosome Xq13.</p><p>Mutations in the same gene can cause hypohidrotic ectodermal dysplasia (<a href="/entry/305100">305100</a>).</p><p>For a discussion of genetic heterogeneity of selective tooth agenesis, see <a href="/entry/106600">106600</a>.</p>
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<p><a href="#2" class="mim-tip-reference" title="Erpenstein, H., Pfeiffer, R. A. <strong>Geschlechsgebunden-dominant erbliche Zahnunterzahl.</strong> Humangenetik 4: 280-293, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6080810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6080810</a>] [<a href="https://doi.org/10.1007/BF00292201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6080810">Erpenstein and Pfeiffer (1967)</a> described transmission of oligodontia or hypodontia through 4 generations of a family. Males had oligodontia; females had hypodontia. No male-to-male transmission was observed. However, only 2 affected males had children (4 unaffected sons, 1 daughter with hypodontia). X-linked inheritance seemed likely. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6080810" 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 at least 18 persons in 4 generations <a href="#1" class="mim-tip-reference" title="Dahlberg, A. A. <strong>Inherited congenital absence of six incisors, deciduous and permanent.</strong> J. Dent. Res. 16: 59-62, 1937."None>Dahlberg (1937)</a> noted absence of at least 6 anterior teeth in both dentitions. He suggested X-linked dominant inheritance, but against this was 1 unaffected daughter of the 1 affected male with children in the kindred.</p><p><a href="#5" 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> reported a Mongolian family in which several members had congenital absence of teeth inherited in an X-linked recessive pattern. No member of the family had any other feature of hypohidrotic ectodermal dysplasia. The manifestation of hypodontia was not uniform in the family, indicating incomplete penetrance or variable expressivity. Affected members commonly had 2 pairs of permanent first molars. All of those affected had congenital absence of lower incisors and lower lateral incisors. <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><p><a href="#6" 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> reported an Indian family in which almost all affected males had absence of all mandibular incisors and maxillary lateral incisors in both the primary and permanent dentition, with maxillary central incisors also missing in some cases. The absence of at least 1 incisor, typically of the maxillary lateral incisors, was also observed in affected females; at least 1 female had as severe a dental phenotype as the affected males. Inheritance was consistent with an X-linked dominant mechanism. No individuals reported abnormal sweating or heat intolerance. <a href="#6" 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> noted that the hypodontia in the family reported by <a href="#5" 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> was more severe and involved all classes of teeth. <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>
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<p>In a family segregating X-linked congenital hypodontia, <a href="#5" 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> found linkage of the disorder with marker loci DXS1111, DXS1689, and DXS8101 (maximum 2-point lod score of 3.55). Haplotype analysis confined the locus to a less than 6.48-cM interval between DXS1124 and DXS1213 at Xq12-q13.1. <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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<p>In a family segregating X-linked congenital hypodontia, <a href="#5" 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 missense mutation in the EDA gene (R65G; <a href="/entry/300451#0014">300451.0014</a>) in all affected males and carrier females. Three of the 9 female carriers (33%) had a skewed X-chromosome inactivation pattern. <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><p>In affected members of an Indian family with X-linked incisor hypodontia, <a href="#6" 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 (Q358E; <a href="/entry/300451#0015">300451.0015</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'})"><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="#3" 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="/entry/300451#0018">300451.0018</a>). The 7-year-old male proband had several deciduous teeth missing, but the shape of the residual teeth was normal. All 16 of the participating family members reported normal levels of sweating and of lachrymal and salivary secretions. Facial features, skin, hair, and nails appeared normal, and none had malformed teeth. <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="#4" 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="/entry/300451#0020">300451.0020</a>) in 2 of the patients, and R289C (<a href="/entry/300451#0021">300451.0021</a>) and R334H (<a href="/entry/300451#0022">300451.0022</a>) in 1 each. The authors observed that all 4 patients had extensively distributed missing teeth in both upper and lower dentitions, including central and/or lateral incisors, but the shape and size of residual teeth were normal. Hair, skin, and nails were normal, and the patients reported normal sweating with no history of dry mouth, heat intolerance, or susceptibility to respiratory tract infections. <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="#3" 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> analyzed 24 patients with defined mutations in the EDA gene and known patterns of tooth agenesis in their permanent dentition. Teeth with the highest probability of absence were the maxillary and mandibular lateral incisors (92%) and the mandibular central incisors (83%). Comparative analysis of the pattern of tooth agenesis between patients with EDA mutations and patients with hypodontia or tooth agenesis due to mutations in the MSX1 (<a href="/entry/142983">142983</a>) or PAX9 (<a href="/entry/167416">167416</a>) genes revealed several statistically significant differences (p less than 0.001): patients with EDA mutations were more likely to be missing maxillary and mandibular central incisors, lateral incisors, and canines, but maxillary and mandibular first permanent molars were more likely to be present. <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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Dahlberg, A. A.
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<strong>Inherited congenital absence of six incisors, deciduous and permanent.</strong>
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J. Dent. Res. 16: 59-62, 1937.
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Erpenstein, H., Pfeiffer, R. A.
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<strong>Geschlechsgebunden-dominant erbliche Zahnunterzahl.</strong>
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Humangenetik 4: 280-293, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6080810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6080810</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6080810" 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/BF00292201" 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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<strong>Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis.</strong>
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Europ. J. Med. Genet. 51: 536-546, 2008.
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[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://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'})">related citations</a>]
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Song, S., Han, D., Qu, H., Gong, Y., Wu, H., Zhang, X., Zhong, N., Feng, H.
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<strong>EDA gene mutations underlie non-syndromic oligodontia.</strong>
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J. Dent. Res. 88: 126-131, 2009.
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[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://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'})">related citations</a>]
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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.
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<strong>A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.</strong>
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J. Hum. Genet. 51: 498-502, 2006.
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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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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.
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<strong>A novel gln358glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.</strong>
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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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Marla J. F. O'Neill - updated : 8/6/2009<br>Cassandra L. Kniffin - updated : 3/26/2007
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carol : 08/15/2016<br>carol : 03/09/2010<br>carol : 4/5/2007<br>joanna : 4/18/2002<br>alopez : 3/20/2000<br>alopez : 2/28/2000<br>mimadm : 2/28/1994<br>supermim : 3/17/1992<br>carol : 9/8/1990<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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HYPODONTIA/OLIGODONTIA, X-LINKED, 1
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<strong>ORPHA:</strong> 99798;
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<strong>DO:</strong> 0050591;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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Xq13.1
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Tooth agenesis, selective, X-linked 1
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<span class="mim-font">
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313500
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X-linked dominant
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3
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EDA
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<span class="mim-font">
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300451
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that X-linked selective tooth agenesis-1 (STHAGX1) is caused by mutation in the gene encoding ectodysplasin A (EDA; 300451) on chromosome Xq13.</p><p>Mutations in the same gene can cause hypohidrotic ectodermal dysplasia (305100).</p><p>For a discussion of genetic heterogeneity of selective tooth agenesis, see 106600.</p>
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<strong>Clinical Features</strong>
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<p>Erpenstein and Pfeiffer (1967) described transmission of oligodontia or hypodontia through 4 generations of a family. Males had oligodontia; females had hypodontia. No male-to-male transmission was observed. However, only 2 affected males had children (4 unaffected sons, 1 daughter with hypodontia). X-linked inheritance seemed likely. </p><p>In at least 18 persons in 4 generations Dahlberg (1937) noted absence of at least 6 anterior teeth in both dentitions. He suggested X-linked dominant inheritance, but against this was 1 unaffected daughter of the 1 affected male with children in the kindred.</p><p>Tao et al. (2006) reported a Mongolian family in which several members had congenital absence of teeth inherited in an X-linked recessive pattern. No member of the family had any other feature of hypohidrotic ectodermal dysplasia. The manifestation of hypodontia was not uniform in the family, indicating incomplete penetrance or variable expressivity. Affected members commonly had 2 pairs of permanent first molars. All of those affected had congenital absence of lower incisors and lower lateral incisors. </p><p>Tarpey et al. (2007) reported an Indian family in which almost all affected males had absence of all mandibular incisors and maxillary lateral incisors in both the primary and permanent dentition, with maxillary central incisors also missing in some cases. The absence of at least 1 incisor, typically of the maxillary lateral incisors, was also observed in affected females; at least 1 female had as severe a dental phenotype as the affected males. Inheritance was consistent with an X-linked dominant mechanism. No individuals reported abnormal sweating or heat intolerance. Tarpey et al. (2007) noted that the hypodontia in the family reported by Tao et al. (2006) was more severe and involved all classes of teeth. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>In a family segregating X-linked congenital hypodontia, Tao et al. (2006) found linkage of the disorder with marker loci DXS1111, DXS1689, and DXS8101 (maximum 2-point lod score of 3.55). Haplotype analysis confined the locus to a less than 6.48-cM interval between DXS1124 and DXS1213 at Xq12-q13.1. </p>
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In a family segregating X-linked congenital hypodontia, Tao et al. (2006) identified a missense mutation in the EDA gene (R65G; 300451.0014) in all affected males and carrier females. Three of the 9 female carriers (33%) had a skewed X-chromosome inactivation pattern. </p><p>In affected members of an Indian family with X-linked incisor hypodontia, Tarpey et al. (2007) identified a mutation in the EDA gene (Q358E; 300451.0015). </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). The 7-year-old male proband had several deciduous teeth missing, but the shape of the residual teeth was normal. All 16 of the participating family members reported normal levels of sweating and of lachrymal and salivary secretions. Facial features, skin, hair, and nails appeared normal, and none had malformed teeth. </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. The authors observed that all 4 patients had extensively distributed missing teeth in both upper and lower dentitions, including central and/or lateral incisors, but the shape and size of residual teeth were normal. Hair, skin, and nails were normal, and the patients reported normal sweating with no history of dry mouth, heat intolerance, or susceptibility to respiratory tract infections. </p>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Han et al. (2008) analyzed 24 patients with defined mutations in the EDA gene and known patterns of tooth agenesis in their permanent dentition. Teeth with the highest probability of absence were the maxillary and mandibular lateral incisors (92%) and the mandibular central incisors (83%). Comparative analysis of the pattern of tooth agenesis between patients with EDA mutations and patients with hypodontia or tooth agenesis due to mutations in the MSX1 (142983) or PAX9 (167416) genes revealed several statistically significant differences (p less than 0.001): patients with EDA mutations were more likely to be missing maxillary and mandibular central incisors, lateral incisors, and canines, but maxillary and mandibular first permanent molars were more likely to be present. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Dahlberg, A. A.
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<strong>Inherited congenital absence of six incisors, deciduous and permanent.</strong>
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J. Dent. Res. 16: 59-62, 1937.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Erpenstein, H., Pfeiffer, R. A.
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<strong>Geschlechsgebunden-dominant erbliche Zahnunterzahl.</strong>
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Humangenetik 4: 280-293, 1967.
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[PubMed: 6080810]
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[Full Text: https://doi.org/10.1007/BF00292201]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Han, D., Gong, Y., Wu, H., Zhang, X., Yan, M., Wang, X., Qu, H., Feng, H., Song, S.
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<strong>Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis.</strong>
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Europ. J. Med. Genet. 51: 536-546, 2008.
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[PubMed: 18657636]
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[Full Text: https://doi.org/10.1016/j.ejmg.2008.06.002]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Song, S., Han, D., Qu, H., Gong, Y., Wu, H., Zhang, X., Zhong, N., Feng, H.
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<strong>EDA gene mutations underlie non-syndromic oligodontia.</strong>
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J. Dent. Res. 88: 126-131, 2009.
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[PubMed: 19278982]
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[Full Text: https://doi.org/10.1177/0022034508328627]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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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.
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<strong>A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.</strong>
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J. Hum. Genet. 51: 498-502, 2006.
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[PubMed: 16583127]
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[Full Text: https://doi.org/10.1007/s10038-006-0389-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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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.
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<strong>A novel gln358glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.</strong>
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Am. J. Med. Genet. 143A: 390-394, 2007.
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[PubMed: 17256800]
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[Full Text: https://doi.org/10.1002/ajmg.a.31567]
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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 : 08/15/2016<br>Marla J. F. O'Neill - updated : 8/6/2009<br>Cassandra L. Kniffin - updated : 3/26/2007
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 08/16/2016<br>carol : 08/15/2016<br>carol : 03/09/2010<br>carol : 4/5/2007<br>joanna : 4/18/2002<br>alopez : 3/20/2000<br>alopez : 2/28/2000<br>mimadm : 2/28/1994<br>supermim : 3/17/1992<br>carol : 9/8/1990<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
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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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</body>
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</html>
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