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<title>
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Entry
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- #193520 - WATSON SYNDROME; WTSN
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- OMIM
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<span class="h4">#193520</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/193520"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</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="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(WATSON SYNDROME) OR (NF1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=204&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.ncbi.nlm.nih.gov/gtr/all/tests/?term=193520[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><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3444" 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.possumcore.com/nuxeo/nxdoc/default/0db6d5f5-48bf-4029-b110-386cdac113ad/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></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 class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070483" 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/193520" 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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<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 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> 403820003<br />
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<strong>ORPHA:</strong> 3444<br />
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<strong>DO:</strong> 0070483<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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193520
|
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</span>
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</span>
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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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WATSON SYNDROME; WTSN
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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PULMONIC STENOSIS WITH CAFE-AU-LAIT SPOTS<br />
|
|
CAFE-AU-LAIT SPOTS WITH PULMONIC STENOSIS
|
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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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<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>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/380?start=-3&limit=10&highlight=380">
|
|
17q11.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Watson syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193520"> 193520 </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">
|
|
NF1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613113"> 613113 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/193520" 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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/193520" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/193520" 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>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Relative macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3961000119101" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3961000119101</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004482</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004482</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lisch nodules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009737</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009737</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pulmonary valvular stenosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034350" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034350</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Multiple cafe-au-lait spots <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1208340009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1208340009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861975&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861975</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007565</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007565</a>]</span><br /> -
|
|
Neurofibromas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/404029005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">404029005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156930004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156930004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027830&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027830</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001067</a>]</span><br /> -
|
|
Axillary freckling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860335&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860335</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000997</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000997</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Low IQ <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0848034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848034</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Allelic to neurofibromatosis-1 (NF1, <a href="/entry/162200">162200</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
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- Caused by mutations in the neurofibromin gene (NF1, <a href="/entry/613113#0010">613113.0010</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that Watson syndrome (WTSN) is caused by heterozygous mutation in the NF1 gene (<a href="/entry/613113">613113</a>) on chromosome 17q11.</p>
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<p>Watson syndrome (WTSN) is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (<a href="#9" class="mim-tip-reference" title="Watson, G. H. <strong>Pulmonary stenosis, cafe-au-lait spots, and dull intelligence.</strong> Arch. Dis. Child. 42: 303-307, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6025371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6025371</a>] [<a href="https://doi.org/10.1136/adc.42.223.303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6025371">Watson, 1967</a>), and short stature (<a href="#3" class="mim-tip-reference" title="Partington, M. W., Burggraf, G. W., Fay, J. E., Frontini, E. <strong>Pulmonary stenosis, cafe au lait spots and dull intelligence: the Watson syndrome revisited. (Abstract)</strong> Proc. Greenwood Genet. Center 4: 105 only, 1985."None>Partington et al., 1985</a>). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (<a href="#2" class="mim-tip-reference" title="Allanson, J. E., Upadhyaya, M., Watson, G. H., Partington, M., MacKenzie, A., Lahey, D., MacLeod, H., Sarfarazi, M., Broadhead, W., Harper, P. S., Huson, S. M. <strong>Watson syndrome: is it a subtype of type 1 neurofibromatosis?</strong> J. Med. Genet. 28: 752-756, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1770531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1770531</a>] [<a href="https://doi.org/10.1136/jmg.28.11.752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1770531">Allanson et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1770531+6025371" 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="Watson, G. H. <strong>Pulmonary stenosis, cafe-au-lait spots, and dull intelligence.</strong> Arch. Dis. Child. 42: 303-307, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6025371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6025371</a>] [<a href="https://doi.org/10.1136/adc.42.223.303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6025371">Watson (1967)</a> described 15 persons from 2 generations of each of 3 families with pulmonic stenosis (8/15), cafe-au-lait spots (15/15) and low normal or dull intelligence (12/15). There were 8 males and 7 females; male-to-male transmission was noted. There were no signs of neurofibromata. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6025371" 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="Partington, M. W., Burggraf, G. W., Fay, J. E., Frontini, E. <strong>Pulmonary stenosis, cafe au lait spots and dull intelligence: the Watson syndrome revisited. (Abstract)</strong> Proc. Greenwood Genet. Center 4: 105 only, 1985."None>Partington et al. (1985)</a> described a father (aged 57 years), his daughter (aged 20) and his son (aged 18), all with pulmonary stenosis, cafe-au-lait spots, and dull intelligence. The daughter also had soft tissue limitation of movement of the knees and ankles and the father had ectasia of the coronary arteries. None had neurofibromas, Lisch nodules, lentigines, or deafness. <a href="#3" class="mim-tip-reference" title="Partington, M. W., Burggraf, G. W., Fay, J. E., Frontini, E. <strong>Pulmonary stenosis, cafe au lait spots and dull intelligence: the Watson syndrome revisited. (Abstract)</strong> Proc. Greenwood Genet. Center 4: 105 only, 1985."None>Partington et al. (1985)</a> contended that the Watson syndrome is distinct from both neurofibromatosis I (NF1; <a href="/entry/162200">162200</a>) and the LEOPARD syndrome (<a href="/entry/151100">151100</a>). Although it was not obvious from the original description, short stature is a universal feature of the Watson syndrome.</p><p><a href="#1" class="mim-tip-reference" title="Allanson, J. E., Upadhyaya, M., Watson, G. H., Partington, M., Harper, P., Huson, S. <strong>Molecular linkage analysis of Watson syndrome. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A38 only, 1989."None>Allanson et al. (1989)</a> reviewed the 2 largest reported families including members of the extended family who had not previously been examined. They expanded the clinical phenotype to include relative macrocephaly and Lisch nodules in most affected individuals and neurofibromata in at least 4 family members. <a href="#2" class="mim-tip-reference" title="Allanson, J. E., Upadhyaya, M., Watson, G. H., Partington, M., MacKenzie, A., Lahey, D., MacLeod, H., Sarfarazi, M., Broadhead, W., Harper, P. S., Huson, S. M. <strong>Watson syndrome: is it a subtype of type 1 neurofibromatosis?</strong> J. Med. Genet. 28: 752-756, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1770531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1770531</a>] [<a href="https://doi.org/10.1136/jmg.28.11.752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1770531">Allanson et al. (1991)</a> extended their review to an additional family. Neurofibromas were found in about one-third of affected persons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1770531" 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>Because of clinical similarities between Watson syndrome and neurofibromatosis, <a href="#2" class="mim-tip-reference" title="Allanson, J. E., Upadhyaya, M., Watson, G. H., Partington, M., MacKenzie, A., Lahey, D., MacLeod, H., Sarfarazi, M., Broadhead, W., Harper, P. S., Huson, S. M. <strong>Watson syndrome: is it a subtype of type 1 neurofibromatosis?</strong> J. Med. Genet. 28: 752-756, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1770531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1770531</a>] [<a href="https://doi.org/10.1136/jmg.28.11.752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1770531">Allanson et al. (1991)</a> performed linkage studies in families with Watson syndrome, using probes known to flank the NF1 gene on chromosome 17. Tight linkage with Watson syndrome was found (maximum lod = 3.29 at theta = 0.0). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1770531" 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>Upadhyaya et al. (<a href="#6" class="mim-tip-reference" title="Upadhyaya, M., Sarfarazi, M., Broadhead, W., Huson, S. M., Allanson, J., Fryer, A. E., Harper, P. S. <strong>Linkage of Watson's syndrome to chromosome 17 markers. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1094 only, 1989."None>1989</a>, <a href="#7" class="mim-tip-reference" title="Upadhyaya, M., Sarfarazi, M., Huson, S., Broadhead, W., Allanson, J., Fryer, A., Harper, P. S. <strong>Linkage of Watson's syndrome to chromosome 17 markers. (Abstract)</strong> J. Med. Genet. 27: 209 only, 1990."None>1990</a>) performed a linkage study of a 3-generation family with Watson syndrome. Close linkage with DNA marker D17S33 was found; maximum lod = 3.28 at theta = 0.00. This marker is also the closest marker to NF1. Thus, Watson syndrome and NF1 may be allelic, or it is possible that pulmonic stenosis is the result of a change in an adjacent gene.</p><p>Using probes flanking the NF1 gene on chromosome 17, <a href="#2" class="mim-tip-reference" title="Allanson, J. E., Upadhyaya, M., Watson, G. H., Partington, M., MacKenzie, A., Lahey, D., MacLeod, H., Sarfarazi, M., Broadhead, W., Harper, P. S., Huson, S. M. <strong>Watson syndrome: is it a subtype of type 1 neurofibromatosis?</strong> J. Med. Genet. 28: 752-756, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1770531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1770531</a>] [<a href="https://doi.org/10.1136/jmg.28.11.752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1770531">Allanson et al. (1991)</a> found tightest linkage with probe HHH202; maximum lod score = 3.59 at theta = 0.0. They interpreted this to indicate that either the Watson syndrome and NF1 are allelic or that there is a group of contiguous genes responsible for the several features of the Watson syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1770531" 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>Relevant to the question of whether the Watson syndrome is a contiguous gene syndrome resulting from deletion of both the NF1 gene and a gene for Noonan syndrome, <a href="#4" class="mim-tip-reference" title="Sharland, M., Taylor, R., Patton, M. A., Jeffery, S. <strong>Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.</strong> J. Med. Genet. 29: 188-190, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1348095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1348095</a>] [<a href="https://doi.org/10.1136/jmg.29.3.188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1348095">Sharland et al. (1992)</a>, in a linkage study in 11 families with Noonan syndrome in 2 or 3 generations, excluded the proximal region of 17q as the location of the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1348095" 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>Watson syndrome is an autosomal dominant disorder <a href="#8" class="mim-tip-reference" title="Upadhyaya, M., Shen, M., Cherryson, A., Farnham, J., Maynard, J., Huson, S. M., Harper, P. S. <strong>Analysis of mutations at the neurofibromatosis 1 (NF1) locus.</strong> Hum. Molec. Genet. 1: 735-740, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1302608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1302608</a>] [<a href="https://doi.org/10.1093/hmg/1.9.735" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1302608">Upadhyaya et al. (1992)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1302608" 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>Supporting the conclusion that Watson syndrome is allelic to NF1 is the finding by <a href="#8" class="mim-tip-reference" title="Upadhyaya, M., Shen, M., Cherryson, A., Farnham, J., Maynard, J., Huson, S. M., Harper, P. S. <strong>Analysis of mutations at the neurofibromatosis 1 (NF1) locus.</strong> Hum. Molec. Genet. 1: 735-740, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1302608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1302608</a>] [<a href="https://doi.org/10.1093/hmg/1.9.735" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1302608">Upadhyaya et al. (1992)</a> of an 80-kb deletion in the NF1 gene (<a href="/entry/613113#0011">613113.0011</a>) in a patient with Watson syndrome. Similarly, <a href="#5" class="mim-tip-reference" title="Tassabehji, M., Strachan, T., Sharland, M., Colley, A., Donnai, D., Harris, R., Thakker, N. <strong>Tandem duplication within a neurofibromatosis type I (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.</strong> Am. J. Hum. Genet. 53: 90-95, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317503</a>]" pmid="8317503">Tassabehji et al. (1993)</a> demonstrated an almost perfect in-frame tandem duplication of 42 bases in exon 28 of the NF1 gene in 3 members of a family with Watson syndrome (<a href="/entry/613113#0010">613113.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1302608+8317503" 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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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1770531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1770531</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1770531" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.28.11.752" 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="3" class="mim-anchor"></a>
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<a id="Partington1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Partington, M. W., Burggraf, G. W., Fay, J. E., Frontini, E.
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|
<strong>Pulmonary stenosis, cafe au lait spots and dull intelligence: the Watson syndrome revisited. (Abstract)</strong>
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Proc. Greenwood Genet. Center 4: 105 only, 1985.
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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="4" class="mim-anchor"></a>
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<a id="Sharland1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Sharland, M., Taylor, R., Patton, M. A., Jeffery, S.
|
|
<strong>Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.</strong>
|
|
J. Med. Genet. 29: 188-190, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1348095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1348095</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1348095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.29.3.188" 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="5" class="mim-anchor"></a>
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<a id="Tassabehji1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tassabehji, M., Strachan, T., Sharland, M., Colley, A., Donnai, D., Harris, R., Thakker, N.
|
|
<strong>Tandem duplication within a neurofibromatosis type I (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.</strong>
|
|
Am. J. Hum. Genet. 53: 90-95, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317503</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8317503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</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="6" class="mim-anchor"></a>
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<a id="Upadhyaya1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Upadhyaya, M., Sarfarazi, M., Broadhead, W., Huson, S. M., Allanson, J., Fryer, A. E., Harper, P. S.
|
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<strong>Linkage of Watson's syndrome to chromosome 17 markers. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1094 only, 1989.
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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="7" class="mim-anchor"></a>
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<a id="Upadhyaya1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Upadhyaya, M., Sarfarazi, M., Huson, S., Broadhead, W., Allanson, J., Fryer, A., Harper, P. S.
|
|
<strong>Linkage of Watson's syndrome to chromosome 17 markers. (Abstract)</strong>
|
|
J. Med. Genet. 27: 209 only, 1990.
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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="8" class="mim-anchor"></a>
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<a id="Upadhyaya1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Upadhyaya, M., Shen, M., Cherryson, A., Farnham, J., Maynard, J., Huson, S. M., Harper, P. S.
|
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<strong>Analysis of mutations at the neurofibromatosis 1 (NF1) locus.</strong>
|
|
Hum. Molec. Genet. 1: 735-740, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1302608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1302608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1302608" 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/1.9.735" 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="9" class="mim-anchor"></a>
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<a id="Watson1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Watson, G. H.
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<strong>Pulmonary stenosis, cafe-au-lait spots, and dull intelligence.</strong>
|
|
Arch. Dis. Child. 42: 303-307, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6025371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6025371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6025371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/adc.42.223.303" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<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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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Iosif W. Lurie - updated : 6/26/1996
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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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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carol : 12/20/2023
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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 : 05/16/2016<br>carol : 8/18/2015<br>carol : 11/23/2009<br>carol : 11/20/2009<br>terry : 6/11/1999<br>terry : 6/3/1998<br>carol : 6/26/1996<br>carol : 6/26/1996<br>mimadm : 6/7/1995<br>carol : 7/14/1993<br>carol : 2/2/1993<br>carol : 1/13/1993<br>carol : 5/26/1992<br>supermim : 3/16/1992
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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 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> 193520
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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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WATSON SYNDROME; WTSN
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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PULMONIC STENOSIS WITH CAFE-AU-LAIT SPOTS<br />
|
|
CAFE-AU-LAIT SPOTS WITH PULMONIC STENOSIS
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 403820003;
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<strong>ORPHA:</strong> 3444;
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<strong>DO:</strong> 0070483;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>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 small mim-table-padding">
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
|
|
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">
|
|
17q11.2
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Watson syndrome
|
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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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|
193520
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
NF1
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
613113
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that Watson syndrome (WTSN) is caused by heterozygous mutation in the NF1 gene (613113) on chromosome 17q11.</p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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|
<p>Watson syndrome (WTSN) is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Watson (1967) described 15 persons from 2 generations of each of 3 families with pulmonic stenosis (8/15), cafe-au-lait spots (15/15) and low normal or dull intelligence (12/15). There were 8 males and 7 females; male-to-male transmission was noted. There were no signs of neurofibromata. </p><p>Partington et al. (1985) described a father (aged 57 years), his daughter (aged 20) and his son (aged 18), all with pulmonary stenosis, cafe-au-lait spots, and dull intelligence. The daughter also had soft tissue limitation of movement of the knees and ankles and the father had ectasia of the coronary arteries. None had neurofibromas, Lisch nodules, lentigines, or deafness. Partington et al. (1985) contended that the Watson syndrome is distinct from both neurofibromatosis I (NF1; 162200) and the LEOPARD syndrome (151100). Although it was not obvious from the original description, short stature is a universal feature of the Watson syndrome.</p><p>Allanson et al. (1989) reviewed the 2 largest reported families including members of the extended family who had not previously been examined. They expanded the clinical phenotype to include relative macrocephaly and Lisch nodules in most affected individuals and neurofibromata in at least 4 family members. Allanson et al. (1991) extended their review to an additional family. Neurofibromas were found in about one-third of affected persons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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|
<p>Because of clinical similarities between Watson syndrome and neurofibromatosis, Allanson et al. (1991) performed linkage studies in families with Watson syndrome, using probes known to flank the NF1 gene on chromosome 17. Tight linkage with Watson syndrome was found (maximum lod = 3.29 at theta = 0.0). </p><p>Upadhyaya et al. (1989, 1990) performed a linkage study of a 3-generation family with Watson syndrome. Close linkage with DNA marker D17S33 was found; maximum lod = 3.28 at theta = 0.00. This marker is also the closest marker to NF1. Thus, Watson syndrome and NF1 may be allelic, or it is possible that pulmonic stenosis is the result of a change in an adjacent gene.</p><p>Using probes flanking the NF1 gene on chromosome 17, Allanson et al. (1991) found tightest linkage with probe HHH202; maximum lod score = 3.59 at theta = 0.0. They interpreted this to indicate that either the Watson syndrome and NF1 are allelic or that there is a group of contiguous genes responsible for the several features of the Watson syndrome. </p><p>Relevant to the question of whether the Watson syndrome is a contiguous gene syndrome resulting from deletion of both the NF1 gene and a gene for Noonan syndrome, Sharland et al. (1992), in a linkage study in 11 families with Noonan syndrome in 2 or 3 generations, excluded the proximal region of 17q as the location of the gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Watson syndrome is an autosomal dominant disorder Upadhyaya et al. (1992). </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Supporting the conclusion that Watson syndrome is allelic to NF1 is the finding by Upadhyaya et al. (1992) of an 80-kb deletion in the NF1 gene (613113.0011) in a patient with Watson syndrome. Similarly, Tassabehji et al. (1993) demonstrated an almost perfect in-frame tandem duplication of 42 bases in exon 28 of the NF1 gene in 3 members of a family with Watson syndrome (613113.0010). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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Allanson, J. E., Upadhyaya, M., Watson, G. H., Partington, M., Harper, P., Huson, S.
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<strong>Molecular linkage analysis of Watson syndrome. (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A38 only, 1989.
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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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Allanson, J. E., Upadhyaya, M., Watson, G. H., Partington, M., MacKenzie, A., Lahey, D., MacLeod, H., Sarfarazi, M., Broadhead, W., Harper, P. S., Huson, S. M.
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<strong>Watson syndrome: is it a subtype of type 1 neurofibromatosis?</strong>
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J. Med. Genet. 28: 752-756, 1991.
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[PubMed: 1770531]
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[Full Text: https://doi.org/10.1136/jmg.28.11.752]
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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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Partington, M. W., Burggraf, G. W., Fay, J. E., Frontini, E.
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<strong>Pulmonary stenosis, cafe au lait spots and dull intelligence: the Watson syndrome revisited. (Abstract)</strong>
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Proc. Greenwood Genet. Center 4: 105 only, 1985.
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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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Sharland, M., Taylor, R., Patton, M. A., Jeffery, S.
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<strong>Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.</strong>
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J. Med. Genet. 29: 188-190, 1992.
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[PubMed: 1348095]
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[Full Text: https://doi.org/10.1136/jmg.29.3.188]
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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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Tassabehji, M., Strachan, T., Sharland, M., Colley, A., Donnai, D., Harris, R., Thakker, N.
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<strong>Tandem duplication within a neurofibromatosis type I (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.</strong>
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Am. J. Hum. Genet. 53: 90-95, 1993.
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[PubMed: 8317503]
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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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Upadhyaya, M., Sarfarazi, M., Broadhead, W., Huson, S. M., Allanson, J., Fryer, A. E., Harper, P. S.
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<strong>Linkage of Watson's syndrome to chromosome 17 markers. (Abstract)</strong>
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Cytogenet. Cell Genet. 51: 1094 only, 1989.
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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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Upadhyaya, M., Sarfarazi, M., Huson, S., Broadhead, W., Allanson, J., Fryer, A., Harper, P. S.
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<strong>Linkage of Watson's syndrome to chromosome 17 markers. (Abstract)</strong>
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J. Med. Genet. 27: 209 only, 1990.
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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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Upadhyaya, M., Shen, M., Cherryson, A., Farnham, J., Maynard, J., Huson, S. M., Harper, P. S.
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<strong>Analysis of mutations at the neurofibromatosis 1 (NF1) locus.</strong>
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Hum. Molec. Genet. 1: 735-740, 1992.
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[PubMed: 1302608]
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[Full Text: https://doi.org/10.1093/hmg/1.9.735]
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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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Watson, G. H.
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<strong>Pulmonary stenosis, cafe-au-lait spots, and dull intelligence.</strong>
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Arch. Dis. Child. 42: 303-307, 1967.
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[PubMed: 6025371]
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[Full Text: https://doi.org/10.1136/adc.42.223.303]
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Iosif W. Lurie - updated : 6/26/1996
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Victor A. McKusick : 6/2/1986
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