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<title>
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Entry
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- #619786 - EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B
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- OMIM
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<span class="h4">#619786</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/619786"><strong>Clinical Synopsis</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="#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 3B, SEVERE) OR (LAMC2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11430&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=619786[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=79404" 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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<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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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 79404<br />
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">ICD+</a>
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</div>
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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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619786
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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 3B, SEVERE; JEB3B
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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 3B, GENERALIZED SEVERE<br />
|
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, 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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<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/1/1487?start=-3&limit=10&highlight=1487">
|
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1q25.3
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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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Epidermolysis bullosa, junctional 3B, 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/619786"> 619786 </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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LAMC2
|
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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/150292"> 150292 </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/619786" 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>
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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">
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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/619786" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/619786" 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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|
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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">
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<strong> SKIN, NAILS, & HAIR </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> Skin </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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|
|
- Skin blistering (onset at birth) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775159&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775159</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 /> -
|
|
Thickened granulation tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775439</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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<span class="h5 mim-font">
|
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<em> Skin Histology </em>
|
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</span>
|
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</div>
|
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<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 />
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|
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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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<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 /> -
|
|
Abnormal hemidesmosomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775440</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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<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Abnormal nails (hands and feet) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775441&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775441</a>]</span><br /> -
|
|
Nail loss (hands and feet) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775442</a>]</span> <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><br />
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|
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</span>
|
|
</div>
|
|
</div>
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</div>
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</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 to early adulthood<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</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> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in laminin, gamma-2 (LAMC2, <a href="/entry/150292#0001">150292.0001</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">
|
|
|
|
|
|
|
|
|
|
|
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|
|
<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>
|
|
<span class="mim-font">
|
|
<a href="/entry/226700"> Epidermolysis bullosa, junctional 1B, 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/226700"> 226700 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150310"> LAMB3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150310"> 150310 </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>
|
|
<span class="mim-font">
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<a href="/entry/226650"> Epidermolysis bullosa, junctional 1A, intermediate </a>
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<a href="/entry/619787"> Epidermolysis bullosa, junctional 4, intermediate </a>
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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/226730"> Epidermolysis bullosa, junctional 5B, with pyloric atresia </a>
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<a href="/entry/619816"> Epidermolysis bullosa, junctional 5A, intermediate </a>
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<a href="/entry/147557"> ITGB4 </a>
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<a href="/geneMap/18/96?start=-3&limit=10&highlight=96"> 18q11.2 </a>
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<a href="/entry/619783"> Epidermolysis bullosa, junctional 2A, intermediate </a>
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<a href="/entry/600805"> LAMA3 </a>
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<a href="/entry/600805"> 600805 </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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<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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<a href="/entry/600805"> 600805 </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 3B (JEB3B) is caused by homozygous mutations in the LAMC2 gene (<a href="/entry/150292">150292</a>) on chromosome 1q25.</p>
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<p>Severe junctional epidermolysis bullosa 3B (JEB3B) 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. Patients die in infancy to early adulthood (summary by <a href="#3" 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="#3" 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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<p><a href="#1" class="mim-tip-reference" title="Aberdam, D., Galliano, M.-F., Vailly, J., Pulkkinen, L., Bonifas, J., Christiano, A. M., Tryggvason, K., Uitto, J., Epstein, E. H., Jr., Ortonne, J.-P., Meneguzzi, G. <strong>Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma-2 subunit of nicein/kalinin (laminin-5).</strong> Nature Genet. 6: 299-304, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012394</a>] [<a href="https://doi.org/10.1038/ng0394-299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012394">Aberdam et al. (1994)</a> studied 8 southern Italian and French families in which the diagnosis of JEB Herlitz type was based on clinical observation of extensive blistering and erosions with crusting and thickened granulation tissue noted shortly after birth. Electron microscopy demonstrated that blisters were within the lamina lucida of the dermoepidermal basement membrane, with epidermis at the roof and lamina densa at the base both intact. Intact patient skin samples failed to stain with GB3 and 19-DEJ-1 monoclonal antibodies. In 4 of these families, linkage to the LAMC2 gene was demonstrated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012394" 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="Pulkkinen, L., Christiano, A. M., Airenne, T., Haakana, H., Tryggvason, K., Uitto, J. <strong>Mutations in the gamma-2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.</strong> Nature Genet. 6: 293-298, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012393</a>] [<a href="https://doi.org/10.1038/ng0394-293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012393">Pulkkinen et al. (1994)</a> described a Hispanic woman (JEB1) with JEB Herlitz type and mutation in the LAMC2 gene. She had multiple erosions and hemorrhagic blisters. She had lost nails on fingers and toes; there was no evidence of digit fusion. She died at age 23 years. A similarly affected older sister had died at age 21 years. Parents and 1 sib were unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Takizawa, Y., Pulkkinen, L., Chao, S.-C., Nakajima, H., Nakano, Y., Shimizu, H., Uitto, J. <strong>Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.</strong> J. Invest. Derm. 115: 307-311, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10951251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10951251</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00052.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10951251">Takizawa et al. (2000)</a> reported a 2-month-old Japanese girl with JEB Herlitz type. Blistering of skin and oral mucous membranes was noted at birth. Immunofluorescence analysis of skin revealed negative laminin-5 staining but positive collagen VII staining. The child died at age 8 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10951251" 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="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 a male infant (patient 10) with JEB Herlitz type and mutation in the LAMC2 gene. Generalized blisters, abnormal nails, and skin cleavage at the level of the lamina lucida were reported. He died at 4 months of age. The individual was 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 JEB3B in the family of patient JEB1 reported by <a href="#5" class="mim-tip-reference" title="Pulkkinen, L., Christiano, A. M., Airenne, T., Haakana, H., Tryggvason, K., Uitto, J. <strong>Mutations in the gamma-2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.</strong> Nature Genet. 6: 293-298, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012393</a>] [<a href="https://doi.org/10.1038/ng0394-293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012393">Pulkkinen et al. (1994)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012393" 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 (JEB1) with Herlitz junctional epidermolysis bullosa, <a href="#5" class="mim-tip-reference" title="Pulkkinen, L., Christiano, A. M., Airenne, T., Haakana, H., Tryggvason, K., Uitto, J. <strong>Mutations in the gamma-2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.</strong> Nature Genet. 6: 293-298, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012393</a>] [<a href="https://doi.org/10.1038/ng0394-293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012393">Pulkkinen et al. (1994)</a> identified a homozygous splice site mutation in the LAMC2 gene (<a href="/entry/150292#0001">150292.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a family (L) with Herlitz junctional epidermolysis bullosa, <a href="#1" class="mim-tip-reference" title="Aberdam, D., Galliano, M.-F., Vailly, J., Pulkkinen, L., Bonifas, J., Christiano, A. M., Tryggvason, K., Uitto, J., Epstein, E. H., Jr., Ortonne, J.-P., Meneguzzi, G. <strong>Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma-2 subunit of nicein/kalinin (laminin-5).</strong> Nature Genet. 6: 299-304, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012394</a>] [<a href="https://doi.org/10.1038/ng0394-299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012394">Aberdam et al. (1994)</a> identified a homozygous arg95-to-ter substitution (R95X; <a href="/entry/150292#0002">150292.0002</a>) in exon 3 of the LAMC2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a family with the Herlitz type of junctional epidermolysis bullosa, <a href="#2" class="mim-tip-reference" title="Baudoin, C., Miquel, C., Gagnoux-Palacios, L., Pulkkinen, L., Christiano, A. M., Uitto, J., Tadini, G., Ortonne, J.-P., Meneguzzi, G. <strong>A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa.</strong> Hum. Molec. Genet. 3: 1909-1910, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849725</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849725">Baudoin et al. (1994)</a> observed a homozygous nonsense mutation in the LAMC2 gene (Y355X; <a href="/entry/150292#0003">150292.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese infant with Herlitz junctional epidermolysis bullosa, <a href="#6" class="mim-tip-reference" title="Takizawa, Y., Pulkkinen, L., Chao, S.-C., Nakajima, H., Nakano, Y., Shimizu, H., Uitto, J. <strong>Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.</strong> J. Invest. Derm. 115: 307-311, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10951251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10951251</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00052.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10951251">Takizawa et al. (2000)</a> identified a homozygous cys553-to-ter (C553X; <a href="/entry/150292#0004">150292.0004</a>) mutation in the LAMC2 gene. The father was a heterozygous carrier of this mutation, whereas the mother had 2 normal LAMC2 alleles. The patient showed homozygosity for 15 known intragenic polymorphisms in the LAMC2 gene and 16 microsatellite markers spanning the entire chromosome 1 which, when informative, were paternal in origin. Homozygosity resulted from nondisjunction and uniparental disomy involving monosomy rescue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10951251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Caucasian male with Herlitz JEB (patient 10) who died at the age of 4 months with generalized blistering and abnormal nails, <a href="#4" 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> found homozygosity for a 7-bp deletion in the LAMC2 gene (<a href="/entry/150292#0005">150292.0005</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'})"><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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Aberdam, D., Galliano, M.-F., Vailly, J., Pulkkinen, L., Bonifas, J., Christiano, A. M., Tryggvason, K., Uitto, J., Epstein, E. H., Jr., Ortonne, J.-P., Meneguzzi, G.
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<strong>Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma-2 subunit of nicein/kalinin (laminin-5).</strong>
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Nature Genet. 6: 299-304, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012394</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0394-299" target="_blank">Full Text</a>]
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Baudoin, C., Miquel, C., Gagnoux-Palacios, L., Pulkkinen, L., Christiano, A. M., Uitto, J., Tadini, G., Ortonne, J.-P., Meneguzzi, G.
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<strong>A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa.</strong>
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Hum. Molec. Genet. 3: 1909-1910, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849725</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849725" 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/3.10.1909" target="_blank">Full Text</a>]
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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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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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Pulkkinen, L., Christiano, A. M., Airenne, T., Haakana, H., Tryggvason, K., Uitto, J.
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<strong>Mutations in the gamma-2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.</strong>
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Nature Genet. 6: 293-298, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012393</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0394-293" target="_blank">Full Text</a>]
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Takizawa, Y., Pulkkinen, L., Chao, S.-C., Nakajima, H., Nakano, Y., Shimizu, H., Uitto, J.
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<strong>Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.</strong>
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J. Invest. Derm. 115: 307-311, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10951251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10951251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10951251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1523-1747.2000.00052.x" target="_blank">Full Text</a>]
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Kelly A. Przylepa - updated : 08/02/2022
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Anne M. Stumpf : 03/09/2022
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carol : 08/05/2022
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alopez : 08/02/2022<br>alopez : 08/02/2022<br>alopez : 03/29/2022
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<strong>#</strong> 619786
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, GENERALIZED SEVERE<br />
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EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, HERLITZ TYPE
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<strong>ORPHA:</strong> 79404;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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1q25.3
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Epidermolysis bullosa, junctional 3B, severe
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619786
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Autosomal recessive
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<span class="mim-font">
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3
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LAMC2
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150292
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<p>A number sign (#) is used with this entry because of evidence that severe junctional epidermolysis bullosa 3B (JEB3B) is caused by homozygous mutations in the LAMC2 gene (150292) on chromosome 1q25.</p>
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<strong>Description</strong>
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<p>Severe junctional epidermolysis bullosa 3B (JEB3B) 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. Patients die in infancy to early adulthood (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>Aberdam et al. (1994) studied 8 southern Italian and French families in which the diagnosis of JEB Herlitz type was based on clinical observation of extensive blistering and erosions with crusting and thickened granulation tissue noted shortly after birth. Electron microscopy demonstrated that blisters were within the lamina lucida of the dermoepidermal basement membrane, with epidermis at the roof and lamina densa at the base both intact. Intact patient skin samples failed to stain with GB3 and 19-DEJ-1 monoclonal antibodies. In 4 of these families, linkage to the LAMC2 gene was demonstrated. </p><p>Pulkkinen et al. (1994) described a Hispanic woman (JEB1) with JEB Herlitz type and mutation in the LAMC2 gene. She had multiple erosions and hemorrhagic blisters. She had lost nails on fingers and toes; there was no evidence of digit fusion. She died at age 23 years. A similarly affected older sister had died at age 21 years. Parents and 1 sib were unaffected. </p><p>Takizawa et al. (2000) reported a 2-month-old Japanese girl with JEB Herlitz type. Blistering of skin and oral mucous membranes was noted at birth. Immunofluorescence analysis of skin revealed negative laminin-5 staining but positive collagen VII staining. The child died at age 8 months. </p><p>Nakano et al. (2002) reported a male infant (patient 10) with JEB Herlitz type and mutation in the LAMC2 gene. Generalized blisters, abnormal nails, and skin cleavage at the level of the lamina lucida were reported. He died at 4 months of age. The individual was 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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<strong>Inheritance</strong>
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<p>The transmission pattern of JEB3B in the family of patient JEB1 reported by Pulkkinen et al. (1994) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In a patient (JEB1) with Herlitz junctional epidermolysis bullosa, Pulkkinen et al. (1994) identified a homozygous splice site mutation in the LAMC2 gene (150292.0001). </p><p>In affected members of a family (L) with Herlitz junctional epidermolysis bullosa, Aberdam et al. (1994) identified a homozygous arg95-to-ter substitution (R95X; 150292.0002) in exon 3 of the LAMC2 gene. </p><p>In affected members of a family with the Herlitz type of junctional epidermolysis bullosa, Baudoin et al. (1994) observed a homozygous nonsense mutation in the LAMC2 gene (Y355X; 150292.0003). </p><p>In a Japanese infant with Herlitz junctional epidermolysis bullosa, Takizawa et al. (2000) identified a homozygous cys553-to-ter (C553X; 150292.0004) mutation in the LAMC2 gene. The father was a heterozygous carrier of this mutation, whereas the mother had 2 normal LAMC2 alleles. The patient showed homozygosity for 15 known intragenic polymorphisms in the LAMC2 gene and 16 microsatellite markers spanning the entire chromosome 1 which, when informative, were paternal in origin. Homozygosity resulted from nondisjunction and uniparental disomy involving monosomy rescue. </p><p>In a Caucasian male with Herlitz JEB (patient 10) who died at the age of 4 months with generalized blistering and abnormal nails, Nakano et al. (2002) found homozygosity for a 7-bp deletion in the LAMC2 gene (150292.0005). </p>
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<strong>REFERENCES</strong>
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Aberdam, D., Galliano, M.-F., Vailly, J., Pulkkinen, L., Bonifas, J., Christiano, A. M., Tryggvason, K., Uitto, J., Epstein, E. H., Jr., Ortonne, J.-P., Meneguzzi, G.
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<strong>Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma-2 subunit of nicein/kalinin (laminin-5).</strong>
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Nature Genet. 6: 299-304, 1994.
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[PubMed: 8012394]
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[Full Text: https://doi.org/10.1038/ng0394-299]
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Baudoin, C., Miquel, C., Gagnoux-Palacios, L., Pulkkinen, L., Christiano, A. M., Uitto, J., Tadini, G., Ortonne, J.-P., Meneguzzi, G.
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<strong>A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa.</strong>
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Hum. Molec. Genet. 3: 1909-1910, 1994.
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[PubMed: 7849725]
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[Full Text: https://doi.org/10.1093/hmg/3.10.1909]
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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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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 class="mim-text-font">
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Pulkkinen, L., Christiano, A. M., Airenne, T., Haakana, H., Tryggvason, K., Uitto, J.
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<strong>Mutations in the gamma-2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.</strong>
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Nature Genet. 6: 293-298, 1994.
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[PubMed: 8012393]
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[Full Text: https://doi.org/10.1038/ng0394-293]
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Takizawa, Y., Pulkkinen, L., Chao, S.-C., Nakajima, H., Nakano, Y., Shimizu, H., Uitto, J.
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<strong>Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.</strong>
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J. Invest. Derm. 115: 307-311, 2000.
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[PubMed: 10951251]
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[Full Text: https://doi.org/10.1046/j.1523-1747.2000.00052.x]
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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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carol : 08/05/2022<br>alopez : 08/02/2022<br>alopez : 08/02/2022<br>alopez : 03/29/2022
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