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<title>
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Entry
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- #619784 - EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B
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- OMIM
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<span class="h4">#619784</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="/phenotypicSeries/PS226650"> <strong>Phenotypic Series</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="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE) OR (LAMA3)" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=619784[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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<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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<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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<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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619784
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, GENERALIZED SEVERE<br />
|
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, HERLITZ TYPE
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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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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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/18/96?start=-3&limit=10&highlight=96">
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18q11.2
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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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Epidermolysis bullosa, junctional 2B, severe
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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/619784"> 619784 </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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</td>
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<td>
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<span class="mim-font">
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LAMA3
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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/600805"> 600805 </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>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/619784" 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="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS226650" 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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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/619784" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/619784" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Mouth </em>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Oral mucosal blistering <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853945&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853945</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200097</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
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<em> Larynx </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Laryngeal mucosal involvement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775438</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Esophageal mucosal involvement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775434</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
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</div>
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</div>
|
|
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</div>
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|
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|
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|
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|
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<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">
|
|
|
|
- Severe skin blistering (onset at birth) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775435</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/823996003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">823996003</a>]</span><br /> -
|
|
Skin erosions (onset at birth) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775160&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775160</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93448009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93448009</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin Histology </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Absent laminin-5 immunofluorescence <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775436&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775436</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Electron Microscopy </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cleavage plane within the basement membrane zone lamina lucida <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775819&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775819</a>]</span><br /> -
|
|
Hypoplastic hemidesmosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856945&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856945</a>]</span><br /> -
|
|
Decreased number of hemidesmosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775175</a>]</span><br /> -
|
|
Decreased anchoring filaments <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775437</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nail loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22743000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22743000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263540&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263540</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025088" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025088</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Death in early infancy<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">
|
|
|
|
- Caused by mutation in laminin, alpha-3 (LAMA3, <a href="/entry/600805#0001">600805.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Epidermolysis bullosa, junctional
|
|
- <a href="/phenotypicSeries/PS226650">PS226650</a>
|
|
- 10 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1487?start=-3&limit=10&highlight=1487"> 1q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619786"> Epidermolysis bullosa, junctional 3B, severe </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619786"> 619786 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150292"> LAMC2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150292"> 150292 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1487?start=-3&limit=10&highlight=1487"> 1q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619785"> Epidermolysis bullosa, junctional 3A, intermediate </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619785"> 619785 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150292"> LAMC2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150292"> 150292 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1666?start=-3&limit=10&highlight=1666"> 1q32.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
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<a href="/entry/226650"> Epidermolysis bullosa, junctional 1A, intermediate </a>
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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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<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/226650"> 226650 </a>
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<a href="/entry/150310"> LAMB3 </a>
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<span class="mim-font">
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<a href="/entry/150310"> 150310 </a>
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<span class="mim-font">
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<a href="/entry/226700"> Epidermolysis bullosa, junctional 1B, severe </a>
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<span class="mim-font">
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<a href="/entry/619787"> Epidermolysis bullosa, junctional 4, intermediate </a>
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<a href="/entry/619787"> 619787 </a>
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<a href="/entry/113811"> 113811 </a>
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<span class="mim-font">
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<a href="/entry/614748"> Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome </a>
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<a href="/entry/614748"> 614748 </a>
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<a href="/entry/605025"> ITGA3 </a>
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<a href="/entry/605025"> 605025 </a>
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<a href="/entry/226730"> Epidermolysis bullosa, junctional 5B, with pyloric atresia </a>
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<a href="/entry/226730"> 226730 </a>
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<a href="/entry/147557"> ITGB4 </a>
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<span class="mim-font">
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<a href="/entry/147557"> 147557 </a>
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<span class="mim-font">
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<a href="/entry/619816"> Epidermolysis bullosa, junctional 5A, intermediate </a>
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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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<a href="/entry/619816"> 619816 </a>
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<a href="/entry/147557"> ITGB4 </a>
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<span class="mim-font">
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<a href="/entry/147557"> 147557 </a>
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<a href="/geneMap/18/96?start=-3&limit=10&highlight=96"> 18q11.2 </a>
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<span class="mim-font">
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<a href="/entry/619784"> Epidermolysis bullosa, junctional 2B, severe </a>
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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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<a href="/entry/619784"> 619784 </a>
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<a href="/entry/600805"> LAMA3 </a>
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<span class="mim-font">
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<a href="/entry/600805"> 600805 </a>
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<a href="/geneMap/18/96?start=-3&limit=10&highlight=96"> 18q11.2 </a>
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<span class="mim-font">
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<a href="/entry/619783"> Epidermolysis bullosa, junctional 2A, intermediate </a>
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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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<a href="/entry/619783"> 619783 </a>
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<a href="/entry/600805"> LAMA3 </a>
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<span class="mim-font">
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<a href="/entry/600805"> 600805 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that severe junctional epidermolysis bullosa 2B (JEB2B) is caused by homozygous mutations in the LAMA3 gene (<a href="/entry/600805">600805</a>) on chromosome 18q11.</p>
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<strong>Description</strong>
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<p>Severe junctional epidermolysis bullosa 2B (JEB2B) is an autosomal recessive skin blistering disorder characterized by extreme fragility of the skin and epithelia of various extracutaneous tissues. Skin blisters and erosions are present at birth. The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Oral mucosal blistering and laryngeal and esophageal mucosal involvement can occur. Patients usually die before 1 year of age (summary by <a href="#1" class="mim-tip-reference" title="Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others. <strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong> Brit. J. Derm. 183: 614-627, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32017015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32017015</a>] [<a href="https://doi.org/10.1111/bjd.18921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32017015">Has et al., 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32017015" 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 discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (<a href="/entry/226650">226650</a>).</p><p><strong><em>Reviews</em></strong></p><p>
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<a href="#1" class="mim-tip-reference" title="Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others. <strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong> Brit. J. Derm. 183: 614-627, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32017015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32017015</a>] [<a href="https://doi.org/10.1111/bjd.18921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32017015">Has et al. (2020)</a> reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32017015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#2" class="mim-tip-reference" title="Kivirikko, S., McGrath, J. A., Baudoin, C., Aberdam, D., Ciatti, S., Dunnill, M. G. S., McMillan, J. R., Eady, R. A. J., Ortonne, J.-P., Meneguzzi, G., Uitto, J., Christiano, A. M. <strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.</strong> Hum. Molec. Genet. 4: 959-962, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633458</a>] [<a href="https://doi.org/10.1093/hmg/4.5.959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633458">Kivirikko et al. (1995)</a> described a 1-month-old male infant, the child of unaffected first-cousin parents of Asian ancestry, with JEB of the Herlitz type and mutation in the LAMA3 gene. At birth the child had extensive blistering of skin and mucous membranes. Indirect immunofluorescence showed essentially negative staining of the dermal-epidermal junction with GB3 antibody. Diagnostic transmission electron microscopy showed rudimentary hemidesmosomes, scanty subbasal dense plates, and few anchoring filaments. Blister formation was at the level of lamina lucida. The child died from complications of the disease in early infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Dunnill, M. G. S., Eady, R. A. J., Rodeck, C. H., Christiano, A. M., Uitto, J. <strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.</strong> Genomics 29: 282-284, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530087</a>] [<a href="https://doi.org/10.1006/geno.1995.1246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530087">McGrath et al. (1995)</a> studied a child of Pakistani origin with Herlitz-type JEB, the offspring of unaffected first-cousin parents, with mutation in the LAMA3 gene. Extensive blisters and erosions were present at examination shortly after birth. Electron microscopy of skin revealed scanty, rudimentary hemidesmosome-anchoring complexes and tissue separation within the lamina lucida. Immunofluorescence staining found absent labeling of the basement membrane zone with anti-laminin-5 antibody. A 2-month-old boy, also the child of unaffected first-cousin Pakistani parents, with Herlitz-type JEB studied by <a href="#3" class="mim-tip-reference" title="McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Christiano, A. M., Uitto, J. <strong>A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.</strong> J. Invest. Derm. 106: 781-784, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8618022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8618022</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12346349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8618022">McGrath et al. (1996)</a> had similar findings and died at 8 months of age. The children studied by <a href="#2" class="mim-tip-reference" title="Kivirikko, S., McGrath, J. A., Baudoin, C., Aberdam, D., Ciatti, S., Dunnill, M. G. S., McMillan, J. R., Eady, R. A. J., Ortonne, J.-P., Meneguzzi, G., Uitto, J., Christiano, A. M. <strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.</strong> Hum. Molec. Genet. 4: 959-962, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633458</a>] [<a href="https://doi.org/10.1093/hmg/4.5.959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633458">Kivirikko et al. (1995)</a>, <a href="#4" class="mim-tip-reference" title="McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Dunnill, M. G. S., Eady, R. A. J., Rodeck, C. H., Christiano, A. M., Uitto, J. <strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.</strong> Genomics 29: 282-284, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530087</a>] [<a href="https://doi.org/10.1006/geno.1995.1246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530087">McGrath et al. (1995)</a>, and <a href="#3" class="mim-tip-reference" title="McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Christiano, A. M., Uitto, J. <strong>A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.</strong> J. Invest. Derm. 106: 781-784, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8618022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8618022</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12346349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8618022">McGrath et al. (1996)</a> all carried the same mutation in homozygosity, and haplotype analysis by <a href="#3" class="mim-tip-reference" title="McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Christiano, A. M., Uitto, J. <strong>A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.</strong> J. Invest. Derm. 106: 781-784, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8618022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8618022</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12346349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8618022">McGrath et al. (1996)</a> demonstrated propagation of an ancestral allele in the Pakistani population. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7633458+8530087+8618022" 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="#5" class="mim-tip-reference" title="Nakano, A., Chao, S.-C., Pulkkinen, L., Murrell, D., Bruckner-Tuderman, L., Pfendner, E., Uitto, J. <strong>Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes.</strong> Hum. Genet. 110: 41-51, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810295</a>] [<a href="https://doi.org/10.1007/s00439-001-0630-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810295">Nakano et al. (2002)</a> reported 5 infants with Herlitz type JEB and mutation in the LAMA3 gene, all of whom died before 5 months of age. In addition to generalized blistering, oral involvement was reported in 2 patients, necessitating feeding tube and tracheostomy in 1. The individuals were identified in a cohort of 27 probands with JEB, 15 with the Herlitz subtype, and mutations in one of the laminin-5 subunit genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810295" 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>The transmission pattern of JEB2B in the families reported by <a href="#2" class="mim-tip-reference" title="Kivirikko, S., McGrath, J. A., Baudoin, C., Aberdam, D., Ciatti, S., Dunnill, M. G. S., McMillan, J. R., Eady, R. A. J., Ortonne, J.-P., Meneguzzi, G., Uitto, J., Christiano, A. M. <strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.</strong> Hum. Molec. Genet. 4: 959-962, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633458</a>] [<a href="https://doi.org/10.1093/hmg/4.5.959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633458">Kivirikko et al. (1995)</a>, <a href="#4" class="mim-tip-reference" title="McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Dunnill, M. G. S., Eady, R. A. J., Rodeck, C. H., Christiano, A. M., Uitto, J. <strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.</strong> Genomics 29: 282-284, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530087</a>] [<a href="https://doi.org/10.1006/geno.1995.1246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530087">McGrath et al. (1995)</a>, and <a href="#3" class="mim-tip-reference" title="McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Christiano, A. M., Uitto, J. <strong>A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.</strong> J. Invest. Derm. 106: 781-784, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8618022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8618022</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12346349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8618022">McGrath et al. (1996)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7633458+8530087+8618022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with Herlitz JEB, <a href="#7" class="mim-tip-reference" title="Vidal, F., Baudoin, C., Miquel, C., Galliano, M.-F., Christiano, A. M., Uitto, J., Ortonne, J.-P., Meneguzzi, G. <strong>Cloning of the laminin alpha-3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa.</strong> Genomics 30: 273-280, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8586427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8586427</a>] [<a href="https://doi.org/10.1006/geno.1995.9877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8586427">Vidal et al. (1995)</a> identified a homozygous 1-bp deletion in the LAMA3 gene (300delG; <a href="/entry/600805#0001">600805.0001</a>). The patient's parents were first cousins. Skin biopsies showed drastically reduced immunoreactivity to antibodies directed against the alpha-3 chain of laminin-5 and impaired expression of the corresponding mRNA transcripts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8586427" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an infant boy with the lethal Herlitz form of junctional epidermolysis bullosa, <a href="#2" class="mim-tip-reference" title="Kivirikko, S., McGrath, J. A., Baudoin, C., Aberdam, D., Ciatti, S., Dunnill, M. G. S., McMillan, J. R., Eady, R. A. J., Ortonne, J.-P., Meneguzzi, G., Uitto, J., Christiano, A. M. <strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.</strong> Hum. Molec. Genet. 4: 959-962, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633458</a>] [<a href="https://doi.org/10.1093/hmg/4.5.959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633458">Kivirikko et al. (1995)</a> identified a homozygous nonsense mutation in the LAMA3 gene (R650X; <a href="/entry/600805#0002">600805.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Dunnill, M. G. S., Eady, R. A. J., Rodeck, C. H., Christiano, A. M., Uitto, J. <strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.</strong> Genomics 29: 282-284, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530087</a>] [<a href="https://doi.org/10.1006/geno.1995.1246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530087">McGrath et al. (1995)</a> identified a homozygous R650X mutation in the LAMA3 gene in a Pakistani infant with Herlitz JEB. <a href="#3" class="mim-tip-reference" title="McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Christiano, A. M., Uitto, J. <strong>A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.</strong> J. Invest. Derm. 106: 781-784, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8618022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8618022</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12346349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8618022">McGrath et al. (1996)</a> identified the R650X mutation in homozygosity in another, apparently unrelated, Pakistani child. Haplotype analysis by <a href="#3" class="mim-tip-reference" title="McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Christiano, A. M., Uitto, J. <strong>A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.</strong> J. Invest. Derm. 106: 781-784, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8618022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8618022</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12346349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8618022">McGrath et al. (1996)</a> in their family and the families reported by <a href="#2" class="mim-tip-reference" title="Kivirikko, S., McGrath, J. A., Baudoin, C., Aberdam, D., Ciatti, S., Dunnill, M. G. S., McMillan, J. R., Eady, R. A. J., Ortonne, J.-P., Meneguzzi, G., Uitto, J., Christiano, A. M. <strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.</strong> Hum. Molec. Genet. 4: 959-962, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633458</a>] [<a href="https://doi.org/10.1093/hmg/4.5.959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633458">Kivirikko et al. (1995)</a> and <a href="#4" class="mim-tip-reference" title="McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Dunnill, M. G. S., Eady, R. A. J., Rodeck, C. H., Christiano, A. M., Uitto, J. <strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.</strong> Genomics 29: 282-284, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530087</a>] [<a href="https://doi.org/10.1006/geno.1995.1246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530087">McGrath et al. (1995)</a> demonstrated propagation of an ancestral allele in the Pakistani population. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7633458+8530087+8618022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Ryan, M. C., Lee, K., Miyashita, Y., Carter, W. G. <strong>Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells.</strong> J. Cell Biol. 145: 1309-1323, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10366601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10366601</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10366601[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1083/jcb.145.6.1309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10366601">Ryan et al. (1999)</a> observed that mice with targeted disruption of the murine Lama3 gene, had profound epithelial abnormalities resulting in neonatal lethality. The Lama3-null animals developed junctional blisters in the skin caused by a separation at the dermal-epidermal junction, similar to that observed in human Herlitz junctional epidermolysis bullosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10366601" 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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Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others.
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<strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong>
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Brit. J. Derm. 183: 614-627, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32017015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32017015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32017015" 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/10.1111/bjd.18921" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Kivirikko1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kivirikko, S., McGrath, J. A., Baudoin, C., Aberdam, D., Ciatti, S., Dunnill, M. G. S., McMillan, J. R., Eady, R. A. J., Ortonne, J.-P., Meneguzzi, G., Uitto, J., Christiano, A. M.
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<strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.</strong>
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Hum. Molec. Genet. 4: 959-962, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633458</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633458" 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/4.5.959" target="_blank">Full Text</a>]
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<a id="McGrath1996" class="mim-anchor"></a>
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<p class="mim-text-font">
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McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Christiano, A. M., Uitto, J.
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<strong>A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.</strong>
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J. Invest. Derm. 106: 781-784, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8618022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8618022</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8618022" 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/10.1111/1523-1747.ep12346349" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="McGrath1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Dunnill, M. G. S., Eady, R. A. J., Rodeck, C. H., Christiano, A. M., Uitto, J.
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<strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.</strong>
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Genomics 29: 282-284, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530087</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1995.1246" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Nakano2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakano, A., Chao, S.-C., Pulkkinen, L., Murrell, D., Bruckner-Tuderman, L., Pfendner, E., Uitto, J.
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<strong>Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes.</strong>
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Hum. Genet. 110: 41-51, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810295</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810295" 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/s00439-001-0630-1" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Ryan1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ryan, M. C., Lee, K., Miyashita, Y., Carter, W. G.
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<strong>Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells.</strong>
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J. Cell Biol. 145: 1309-1323, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10366601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10366601</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10366601[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10366601" 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/10.1083/jcb.145.6.1309" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Vidal1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vidal, F., Baudoin, C., Miquel, C., Galliano, M.-F., Christiano, A. M., Uitto, J., Ortonne, J.-P., Meneguzzi, G.
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<strong>Cloning of the laminin alpha-3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa.</strong>
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Genomics 30: 273-280, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8586427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8586427</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8586427" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1995.9877" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Kelly A. Przylepa - updated : 08/02/2022
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Creation Date:
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Anne M. Stumpf : 03/09/2022
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alopez : 08/02/2022
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alopez : 03/29/2022
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<span class="mim-font">
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<strong>#</strong> 619784
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, GENERALIZED SEVERE<br />
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, HERLITZ TYPE
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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18q11.2
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<span class="mim-font">
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Epidermolysis bullosa, junctional 2B, severe
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619784
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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LAMA3
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<span class="mim-font">
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600805
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that severe junctional epidermolysis bullosa 2B (JEB2B) is caused by homozygous mutations in the LAMA3 gene (600805) on chromosome 18q11.</p>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Severe junctional epidermolysis bullosa 2B (JEB2B) is an autosomal recessive skin blistering disorder characterized by extreme fragility of the skin and epithelia of various extracutaneous tissues. Skin blisters and erosions are present at birth. The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Oral mucosal blistering and laryngeal and esophageal mucosal involvement can occur. Patients usually die before 1 year of age (summary by Has et al., 2020). </p><p>For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650).</p><p><strong><em>Reviews</em></strong></p><p>
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Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa. </p>
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<strong>Clinical Features</strong>
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<p>Kivirikko et al. (1995) described a 1-month-old male infant, the child of unaffected first-cousin parents of Asian ancestry, with JEB of the Herlitz type and mutation in the LAMA3 gene. At birth the child had extensive blistering of skin and mucous membranes. Indirect immunofluorescence showed essentially negative staining of the dermal-epidermal junction with GB3 antibody. Diagnostic transmission electron microscopy showed rudimentary hemidesmosomes, scanty subbasal dense plates, and few anchoring filaments. Blister formation was at the level of lamina lucida. The child died from complications of the disease in early infancy. </p><p>McGrath et al. (1995) studied a child of Pakistani origin with Herlitz-type JEB, the offspring of unaffected first-cousin parents, with mutation in the LAMA3 gene. Extensive blisters and erosions were present at examination shortly after birth. Electron microscopy of skin revealed scanty, rudimentary hemidesmosome-anchoring complexes and tissue separation within the lamina lucida. Immunofluorescence staining found absent labeling of the basement membrane zone with anti-laminin-5 antibody. A 2-month-old boy, also the child of unaffected first-cousin Pakistani parents, with Herlitz-type JEB studied by McGrath et al. (1996) had similar findings and died at 8 months of age. The children studied by Kivirikko et al. (1995), McGrath et al. (1995), and McGrath et al. (1996) all carried the same mutation in homozygosity, and haplotype analysis by McGrath et al. (1996) demonstrated propagation of an ancestral allele in the Pakistani population. </p><p>Nakano et al. (2002) reported 5 infants with Herlitz type JEB and mutation in the LAMA3 gene, all of whom died before 5 months of age. In addition to generalized blistering, oral involvement was reported in 2 patients, necessitating feeding tube and tracheostomy in 1. The individuals were identified in a cohort of 27 probands with JEB, 15 with the Herlitz subtype, and mutations in one of the laminin-5 subunit genes. </p>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of JEB2B in the families reported by Kivirikko et al. (1995), McGrath et al. (1995), and McGrath et al. (1996) was consistent with autosomal recessive inheritance. </p>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<p>In a patient with Herlitz JEB, Vidal et al. (1995) identified a homozygous 1-bp deletion in the LAMA3 gene (300delG; 600805.0001). The patient's parents were first cousins. Skin biopsies showed drastically reduced immunoreactivity to antibodies directed against the alpha-3 chain of laminin-5 and impaired expression of the corresponding mRNA transcripts. </p><p>In an infant boy with the lethal Herlitz form of junctional epidermolysis bullosa, Kivirikko et al. (1995) identified a homozygous nonsense mutation in the LAMA3 gene (R650X; 600805.0002). </p><p>McGrath et al. (1995) identified a homozygous R650X mutation in the LAMA3 gene in a Pakistani infant with Herlitz JEB. McGrath et al. (1996) identified the R650X mutation in homozygosity in another, apparently unrelated, Pakistani child. Haplotype analysis by McGrath et al. (1996) in their family and the families reported by Kivirikko et al. (1995) and McGrath et al. (1995) demonstrated propagation of an ancestral allele in the Pakistani population. </p>
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<strong>Animal Model</strong>
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<span class="mim-text-font">
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<p>Ryan et al. (1999) observed that mice with targeted disruption of the murine Lama3 gene, had profound epithelial abnormalities resulting in neonatal lethality. The Lama3-null animals developed junctional blisters in the skin caused by a separation at the dermal-epidermal junction, similar to that observed in human Herlitz junctional epidermolysis bullosa. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., and 10 others.
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<strong>Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.</strong>
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Brit. J. Derm. 183: 614-627, 2020.
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[PubMed: 32017015]
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[Full Text: https://doi.org/10.1111/bjd.18921]
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Kivirikko, S., McGrath, J. A., Baudoin, C., Aberdam, D., Ciatti, S., Dunnill, M. G. S., McMillan, J. R., Eady, R. A. J., Ortonne, J.-P., Meneguzzi, G., Uitto, J., Christiano, A. M.
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<strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.</strong>
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Hum. Molec. Genet. 4: 959-962, 1995.
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[PubMed: 7633458]
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[Full Text: https://doi.org/10.1093/hmg/4.5.959]
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</p>
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</li>
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<p class="mim-text-font">
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McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Christiano, A. M., Uitto, J.
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<strong>A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.</strong>
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J. Invest. Derm. 106: 781-784, 1996.
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[PubMed: 8618022]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12346349]
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</p>
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<li>
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<p class="mim-text-font">
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McGrath, J. A., Kivirikko, S., Ciatti, S., Moss, C., Dunnill, M. G. S., Eady, R. A. J., Rodeck, C. H., Christiano, A. M., Uitto, J.
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<strong>A homozygous nonsense mutation in the alpha-3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.</strong>
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Genomics 29: 282-284, 1995.
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[PubMed: 8530087]
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[Full Text: https://doi.org/10.1006/geno.1995.1246]
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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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Nakano, A., Chao, S.-C., Pulkkinen, L., Murrell, D., Bruckner-Tuderman, L., Pfendner, E., Uitto, J.
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<strong>Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes.</strong>
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Hum. Genet. 110: 41-51, 2002.
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[PubMed: 11810295]
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[Full Text: https://doi.org/10.1007/s00439-001-0630-1]
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</p>
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<li>
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<p class="mim-text-font">
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Ryan, M. C., Lee, K., Miyashita, Y., Carter, W. G.
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<strong>Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells.</strong>
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J. Cell Biol. 145: 1309-1323, 1999.
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[PubMed: 10366601]
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[Full Text: https://doi.org/10.1083/jcb.145.6.1309]
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<p class="mim-text-font">
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Vidal, F., Baudoin, C., Miquel, C., Galliano, M.-F., Christiano, A. M., Uitto, J., Ortonne, J.-P., Meneguzzi, G.
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<strong>Cloning of the laminin alpha-3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa.</strong>
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Genomics 30: 273-280, 1995.
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[PubMed: 8586427]
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[Full Text: https://doi.org/10.1006/geno.1995.9877]
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<span class="mim-text-font">
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Kelly A. Przylepa - updated : 08/02/2022
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<span class="mim-text-font">
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Anne M. Stumpf : 03/09/2022
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alopez : 08/02/2022<br>alopez : 03/29/2022
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