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Entry
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- #614819 - WEILL-MARCHESANI SYNDROME 3; WMS3
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- OMIM
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<p>
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<span class="h4">#614819</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/614819"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS277600"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</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="#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="#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 style="display: table-cell;">External Links</div>
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</h4>
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<div><a href="https://clinicaltrials.gov/search?cond=WEILL-MARCHESANI SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." 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=3033&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/books/NBK1114/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614819[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=3449" 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 id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050475" 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/614819" 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:0050475" 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 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> 3449<br />
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<strong>DO:</strong> 0050475<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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614819
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</span>
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</span>
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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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WEILL-MARCHESANI SYNDROME 3; WMS3
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</h3>
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<div>
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<br />
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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>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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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/14/388?start=-3&limit=10&highlight=388">
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14q24.3
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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">
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?Weill-Marchesani syndrome 3, recessive
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
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<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
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</span>
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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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<a href="/entry/614819"> 614819 </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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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<td>
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<span class="mim-font">
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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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</td>
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<td>
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<span class="mim-font">
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LTBP2
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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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<a href="/entry/602091"> 602091 </a>
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</span>
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</td>
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</tbody>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/614819" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="sr-only">Toggle Dropdown</span>
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<a href="/phenotypicSeries/PS277600" class="btn btn-info" role="button"> Phenotypic Series </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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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/614819" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/614819" 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>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
|
|
</div>
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|
|
</div>
|
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|
|
</div>
|
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|
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|
|
<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> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ectopia lentis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74969002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74969002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q12.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q12.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.37</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013581</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001083</a>]</span><br /> -
|
|
Myopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57190000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57190000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027092</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span><br /> -
|
|
Increased intraocular pressure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112222000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112222000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007906" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007906</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007906" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007906</a>]</span><br /> -
|
|
Shallow anterior chamber <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246986004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246986004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423276</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000594" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000594</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000594" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000594</a>]</span><br /> -
|
|
Microspherophakia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416671000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416671000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1562061&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1562061</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030961" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030961</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030961" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030961</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 valve stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56786000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56786000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span><br /> -
|
|
Aortic valve stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60573004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60573004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003507</a>, <a href="https://bioportal.bioontology.org/search?q=C5193127&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5193127</a>, <a href="https://bioportal.bioontology.org/search?q=C5700069&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5700069</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001650</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Joint stiffness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84445001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84445001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162298&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162298</a>, <a href="https://bioportal.bioontology.org/search?q=C4085642&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085642</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001387</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001387</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Brachydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43476002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43476002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
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|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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- Based on 1 family (last curated September 2012)<br />
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<strong> MOLECULAR BASIS </strong>
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<span class="mim-font">
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- Caused by mutation in the latent transforming growth factor-beta-binding protein 2 gene (LTBP2, <a href="/entry/602091#0012">602091.0012</a>)<br />
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Weill-Marchesani syndrome
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- <a href="/phenotypicSeries/PS277600">PS277600</a>
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- 4 Entries
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</h5>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<strong>Location</strong>
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<span class="mim-font">
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<a href="/geneMap/14/388?start=-3&limit=10&highlight=388"> 14q24.3 </a>
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<span class="mim-font">
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<a href="/entry/614819"> ?Weill-Marchesani syndrome 3, recessive </a>
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</span>
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</td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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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 class="mim-font">
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<a href="/entry/614819"> 614819 </a>
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<span class="mim-font">
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<a href="/entry/602091"> LTBP2 </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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<a href="/entry/602091"> 602091 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/geneMap/15/192?start=-3&limit=10&highlight=192"> 15q21.1 </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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<a href="/entry/608328"> Weill-Marchesani syndrome 2, dominant </a>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</td>
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<td>
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<span class="mim-font">
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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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<span class="mim-font">
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<a href="/entry/608328"> 608328 </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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<a href="/entry/134797"> FBN1 </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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<a href="/entry/134797"> 134797 </a>
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/15/542?start=-3&limit=10&highlight=542"> 15q26.3 </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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<a href="/entry/613195"> Weill-Marchesani 4 syndrome, recessive </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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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<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">
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<a href="/entry/613195"> 613195 </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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<a href="/entry/607511"> ADAMTS17 </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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<a href="/entry/607511"> 607511 </a>
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</span>
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</td>
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</tr>
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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/19/239?start=-3&limit=10&highlight=239"> 19p13.2 </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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<a href="/entry/277600"> Weill-Marchesani syndrome 1, recessive </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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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<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">
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<a href="/entry/277600"> 277600 </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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<a href="/entry/608990"> ADAMTS10 </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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<a href="/entry/608990"> 608990 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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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="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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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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</span>
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</span>
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</h4>
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<p>A number sign (#) is used with this entry because of evidence that Weill-Marchesani syndrome-3 (WMS3) is caused by homozygous mutation in the LTBP2 gene (<a href="/entry/602091">602091</a>) on chromosome 14q24. One such family has been reported.</p>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (<a href="#1" class="mim-tip-reference" title="Faivre, L., Megarbane, A., Alswaid, A., Zylberberg, L., Aldohayan, N., Campos-Xavier, A. B., Bacq, D., Legeai-Mallet, L., Bonaventure, J., Munnich, A., Cormier-Daire, V. <strong>Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.</strong> Hum. Genet. 110: 366-370, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941487</a>] [<a href="https://doi.org/10.1007/s00439-002-0689-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11941487">Faivre et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11941487" 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>For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see <a href="/entry/277600">277600</a>.</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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<a id="clinicalFeatures" class="mim-anchor"></a>
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<p><a href="#2" class="mim-tip-reference" title="Haji-Seyed-Javadi, R., Jelodari-Mamaghani, S., Paylakhi, S. H., Yazdani, S., Nilforushan, N., Fan, J.-B., Klotzle, B., Mahmoudi, M. J., Ebrahimian, M. J., Chelich, N., Taghiabadi, E., Kamyab, K., Boileau, C., Paisan-Ruiz, C., Ronaghi, M., Elahi, E. <strong>LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.</strong> Hum. Mutat. 33: 1182-1187, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22539340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22539340</a>] [<a href="https://doi.org/10.1002/humu.22105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22539340">Haji-Seyed-Javadi et al. (2012)</a> studied a large consanguineous Iranian family in which a brother and sister and their cousin had Weill-Marchesani syndrome, whereas 3 older sibs of the brother and sister displayed some features of WMS without meeting diagnostic criteria for the disorder. The proband was a 17-year-old boy who had ectopia lentis, myopia, elevated intraocular pressure, shallow anterior chamber, microspherophakia, short stature, brachydactyly, joint stiffness, and pulmonary and aortic stenosis. His 19-year-old sister also showed all of these features. In addition, 3 sibs had no eye findings but displayed some of the other features of WMS: a 30-year-old sister had brachydactyly, joint stiffness, and pulmonary and aortic stenosis; a 36-year-old brother had brachydactyly, joint stiffness, and pulmonary stenosis; and a 22-year-old sister had pulmonary and aortic stenosis. Their 37-year-old female cousin displayed all of the eye findings as well as brachydactyly and joint stiffness, but did not have pulmonary or aortic stenosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22539340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<a id="inheritance" class="mim-anchor"></a>
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<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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<p>The transmission pattern of WMS3 in the Iranian family reported by <a href="#2" class="mim-tip-reference" title="Haji-Seyed-Javadi, R., Jelodari-Mamaghani, S., Paylakhi, S. H., Yazdani, S., Nilforushan, N., Fan, J.-B., Klotzle, B., Mahmoudi, M. J., Ebrahimian, M. J., Chelich, N., Taghiabadi, E., Kamyab, K., Boileau, C., Paisan-Ruiz, C., Ronaghi, M., Elahi, E. <strong>LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.</strong> Hum. Mutat. 33: 1182-1187, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22539340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22539340</a>] [<a href="https://doi.org/10.1002/humu.22105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22539340">Haji-Seyed-Javadi et al. (2012)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22539340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#2" class="mim-tip-reference" title="Haji-Seyed-Javadi, R., Jelodari-Mamaghani, S., Paylakhi, S. H., Yazdani, S., Nilforushan, N., Fan, J.-B., Klotzle, B., Mahmoudi, M. J., Ebrahimian, M. J., Chelich, N., Taghiabadi, E., Kamyab, K., Boileau, C., Paisan-Ruiz, C., Ronaghi, M., Elahi, E. <strong>LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.</strong> Hum. Mutat. 33: 1182-1187, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22539340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22539340</a>] [<a href="https://doi.org/10.1002/humu.22105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22539340">Haji-Seyed-Javadi et al. (2012)</a> screened the LTBP2 gene for sequence variations in 30 unrelated Iranian probands with ectopia lentis (see <a href="/entry/129600">129600</a>), which was isolated in 13, associated with WMS in 4, and associated with Marfan syndrome (MFS; <a href="/entry/154700">154700</a>) in 13. The proband of a large consanguineous Iranian family with ectopia lentis and WMS was found to be homozygous for a missense mutation (V1177M; <a href="/entry/602091#0012">602091.0012</a>), which was also identified in 2 more affected family members, as well as in 3 relatives with WMS-like features. Analysis of FBN1 (<a href="/entry/134797">134797</a>), ADAMTS10 (<a href="/entry/608990">608990</a>), and ADAMTS17 (<a href="/entry/607511">607511</a>) in 2 family members, 1 diagnosed with WMS and 1 with WMS-like features, revealed no disease-causing variations. Whole-genome homozygosity mapping on DNA from 5 affected and 4 unaffected family members confirmed that the only homozygous region segregating with affected status was an interval bordered by SNPs <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs8017852;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs8017852</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs7150688;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs7150688</a>, containing the LTBP2 gene. <a href="#2" class="mim-tip-reference" title="Haji-Seyed-Javadi, R., Jelodari-Mamaghani, S., Paylakhi, S. H., Yazdani, S., Nilforushan, N., Fan, J.-B., Klotzle, B., Mahmoudi, M. J., Ebrahimian, M. J., Chelich, N., Taghiabadi, E., Kamyab, K., Boileau, C., Paisan-Ruiz, C., Ronaghi, M., Elahi, E. <strong>LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.</strong> Hum. Mutat. 33: 1182-1187, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22539340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22539340</a>] [<a href="https://doi.org/10.1002/humu.22105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22539340">Haji-Seyed-Javadi et al. (2012)</a> also identified heterozygosity for a nonsense mutation in LTBP2 in a proband with ectopia lentis associated with Marfan syndrome; the proband and his MFS-affected daughter, who did not carry the LTBP2 mutation, were both found to also carry a mutation in the FBN1 gene. However, the proband's mother and brother, who had mitral valve prolapse (MVP) and primary closed angle glaucoma and MVP, myopia, and mild pectus excavatum, respectively, had the LTBP2 mutation but not the FBN1 mutation. <a href="#2" class="mim-tip-reference" title="Haji-Seyed-Javadi, R., Jelodari-Mamaghani, S., Paylakhi, S. H., Yazdani, S., Nilforushan, N., Fan, J.-B., Klotzle, B., Mahmoudi, M. J., Ebrahimian, M. J., Chelich, N., Taghiabadi, E., Kamyab, K., Boileau, C., Paisan-Ruiz, C., Ronaghi, M., Elahi, E. <strong>LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.</strong> Hum. Mutat. 33: 1182-1187, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22539340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22539340</a>] [<a href="https://doi.org/10.1002/humu.22105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22539340">Haji-Seyed-Javadi et al. (2012)</a> concluded that the FBN1 mutation was highly likely to be the major cause of the ectopia lentis-Marfan syndrome phenotype in the pedigree, but that LTBP2 also contributed to disease status. No disease-associated mutation was identified in the 13 probands with isolated ectopia lentis; however, the authors thought that it remained a plausible candidate gene and suggested that larger cohorts be screened. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22539340" 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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Faivre, L., Megarbane, A., Alswaid, A., Zylberberg, L., Aldohayan, N., Campos-Xavier, A. B., Bacq, D., Legeai-Mallet, L., Bonaventure, J., Munnich, A., Cormier-Daire, V.
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<strong>Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.</strong>
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Hum. Genet. 110: 366-370, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941487</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11941487" 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/s00439-002-0689-3" target="_blank">Full Text</a>]
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Haji-Seyed-Javadi, R., Jelodari-Mamaghani, S., Paylakhi, S. H., Yazdani, S., Nilforushan, N., Fan, J.-B., Klotzle, B., Mahmoudi, M. J., Ebrahimian, M. J., Chelich, N., Taghiabadi, E., Kamyab, K., Boileau, C., Paisan-Ruiz, C., Ronaghi, M., Elahi, E.
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<strong>LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.</strong>
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Hum. Mutat. 33: 1182-1187, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22539340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22539340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22539340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22105" target="_blank">Full Text</a>]
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Marla J. F. O'Neill : 9/13/2012
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carol : 10/31/2023
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carol : 11/20/2017<br>carol : 09/13/2012
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<strong>ORPHA:</strong> 3449;
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<strong>DO:</strong> 0050475;
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?Weill-Marchesani syndrome 3, recessive
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Autosomal recessive
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3
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LTBP2
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<p>A number sign (#) is used with this entry because of evidence that Weill-Marchesani syndrome-3 (WMS3) is caused by homozygous mutation in the LTBP2 gene (602091) on chromosome 14q24. One such family has been reported.</p>
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<p>Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see 277600.</p>
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<p>Haji-Seyed-Javadi et al. (2012) studied a large consanguineous Iranian family in which a brother and sister and their cousin had Weill-Marchesani syndrome, whereas 3 older sibs of the brother and sister displayed some features of WMS without meeting diagnostic criteria for the disorder. The proband was a 17-year-old boy who had ectopia lentis, myopia, elevated intraocular pressure, shallow anterior chamber, microspherophakia, short stature, brachydactyly, joint stiffness, and pulmonary and aortic stenosis. His 19-year-old sister also showed all of these features. In addition, 3 sibs had no eye findings but displayed some of the other features of WMS: a 30-year-old sister had brachydactyly, joint stiffness, and pulmonary and aortic stenosis; a 36-year-old brother had brachydactyly, joint stiffness, and pulmonary stenosis; and a 22-year-old sister had pulmonary and aortic stenosis. Their 37-year-old female cousin displayed all of the eye findings as well as brachydactyly and joint stiffness, but did not have pulmonary or aortic stenosis. </p>
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<p>The transmission pattern of WMS3 in the Iranian family reported by Haji-Seyed-Javadi et al. (2012) was consistent with autosomal recessive inheritance. </p>
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<p>Haji-Seyed-Javadi et al. (2012) screened the LTBP2 gene for sequence variations in 30 unrelated Iranian probands with ectopia lentis (see 129600), which was isolated in 13, associated with WMS in 4, and associated with Marfan syndrome (MFS; 154700) in 13. The proband of a large consanguineous Iranian family with ectopia lentis and WMS was found to be homozygous for a missense mutation (V1177M; 602091.0012), which was also identified in 2 more affected family members, as well as in 3 relatives with WMS-like features. Analysis of FBN1 (134797), ADAMTS10 (608990), and ADAMTS17 (607511) in 2 family members, 1 diagnosed with WMS and 1 with WMS-like features, revealed no disease-causing variations. Whole-genome homozygosity mapping on DNA from 5 affected and 4 unaffected family members confirmed that the only homozygous region segregating with affected status was an interval bordered by SNPs rs8017852 and rs7150688, containing the LTBP2 gene. Haji-Seyed-Javadi et al. (2012) also identified heterozygosity for a nonsense mutation in LTBP2 in a proband with ectopia lentis associated with Marfan syndrome; the proband and his MFS-affected daughter, who did not carry the LTBP2 mutation, were both found to also carry a mutation in the FBN1 gene. However, the proband's mother and brother, who had mitral valve prolapse (MVP) and primary closed angle glaucoma and MVP, myopia, and mild pectus excavatum, respectively, had the LTBP2 mutation but not the FBN1 mutation. Haji-Seyed-Javadi et al. (2012) concluded that the FBN1 mutation was highly likely to be the major cause of the ectopia lentis-Marfan syndrome phenotype in the pedigree, but that LTBP2 also contributed to disease status. No disease-associated mutation was identified in the 13 probands with isolated ectopia lentis; however, the authors thought that it remained a plausible candidate gene and suggested that larger cohorts be screened. </p>
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Faivre, L., Megarbane, A., Alswaid, A., Zylberberg, L., Aldohayan, N., Campos-Xavier, A. B., Bacq, D., Legeai-Mallet, L., Bonaventure, J., Munnich, A., Cormier-Daire, V.
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<strong>Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.</strong>
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Hum. Genet. 110: 366-370, 2002.
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[PubMed: 11941487]
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[Full Text: https://doi.org/10.1007/s00439-002-0689-3]
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Haji-Seyed-Javadi, R., Jelodari-Mamaghani, S., Paylakhi, S. H., Yazdani, S., Nilforushan, N., Fan, J.-B., Klotzle, B., Mahmoudi, M. J., Ebrahimian, M. J., Chelich, N., Taghiabadi, E., Kamyab, K., Boileau, C., Paisan-Ruiz, C., Ronaghi, M., Elahi, E.
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<strong>LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.</strong>
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Hum. Mutat. 33: 1182-1187, 2012.
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[PubMed: 22539340]
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[Full Text: https://doi.org/10.1002/humu.22105]
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