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<title>
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Entry
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- #610100 - GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT; GAN2
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- OMIM
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<span class="h4">#610100</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/610100"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS256850"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<div><a href="https://clinicaltrials.gov/search?cond=(GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT) OR (DCAF8)" 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=22860&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=610100[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=401964" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
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</span>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0090069" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/610100" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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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> 401964<br />
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<strong>DO:</strong> 0090069<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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610100
|
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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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GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT; GAN2
|
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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="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<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>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
|
Gene/Locus <br /> MIM number
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</th>
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</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/1/1314?start=-3&limit=10&highlight=1314">
|
|
1q23.2
|
|
</a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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?Giant axonal neuropathy 2, autosomal dominant
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
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<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
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</span>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610100"> 610100 </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 dominant">AD</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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DCAF8
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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/615820"> 615820 </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/610100" 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/PS256850" 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;">
|
|
<li><a href="/graph/linear/610100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/610100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
|
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</div>
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<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 dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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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">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cardiomyopathy (reported in 1 family) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85898001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85898001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57809008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57809008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
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|
|
</div>
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|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Hammer toes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/122481008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">122481008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1136179&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1136179</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001765" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001765</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Distal limb muscle weakness due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864696</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249942005</a>]</span><br /> -
|
|
Distal limb muscle atrophy due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864697</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span><br /> -
|
|
Steppage gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27253007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27253007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427149</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003376</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003376</a>]</span><br /> -
|
|
Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br /> -
|
|
Areflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br /> -
|
|
Distal sensory loss of tactile and vibratory senses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864698&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864698</a>]</span><br /> -
|
|
EMG shows chronic denervation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864699&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864699</a>]</span><br /> -
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Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864700&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864700</a>]</span><br /> -
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Sural nerve biopsy shows occasional onion bulb formations <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864701&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864701</a>]</span><br /> -
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Normal or mildly decreased motor nerve conduction velocities (NCV) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838201&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838201</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Foot deformities are present in infancy or childhood<br /> -
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Neurologic features occur in adulthood<br /> -
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One family with a confirmed DCAF8 mutation has been reported (last curated June, 2014)<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the DDB1- and CUL4-associated factor 8 gene (DCAF8, <a href="/entry/615820#0001">615820.0001</a>).<br />
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<h5>
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Giant axonal neuropathy
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- <a href="/phenotypicSeries/PS256850">PS256850</a>
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- 2 Entries
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<strong>Location</strong>
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<a href="/geneMap/1/1314?start=-3&limit=10&highlight=1314"> 1q23.2 </a>
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<span class="mim-font">
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<a href="/entry/610100"> ?Giant axonal neuropathy 2, autosomal dominant </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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/610100"> 610100 </a>
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<a href="/entry/615820"> DCAF8 </a>
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<span class="mim-font">
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<a href="/entry/615820"> 615820 </a>
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<a href="/geneMap/16/677?start=-3&limit=10&highlight=677"> 16q23.2 </a>
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<span class="mim-font">
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<a href="/entry/256850"> Giant axonal neuropathy-1 </a>
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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/256850"> 256850 </a>
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<a href="/entry/605379"> GAN </a>
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<span class="mim-font">
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<a href="/entry/605379"> 605379 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</h4>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant giant axonal neuropathy-2 (GAN2) is caused by heterozygous mutation in the DCAF8 gene (<a href="/entry/615820">615820</a>) on chromosome 1q23. One such family has been reported.</p><p>For a discussion of genetic heterogeneity of giant axonal neuropathy, see GAN1 (<a href="/entry/256850">256850</a>).</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>Giant axonal neuropathy-2 is an autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment and lower extremity muscle weakness and atrophy after the second decade. Foot deformities may be present in childhood. More severely affected individuals may develop cardiomyopathy. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation (summary by <a href="#1" class="mim-tip-reference" title="Klein, C. J., Wu, Y., Vogel, P., Goebel, H. H., Bonnemann, C., Zukosky, K., Botuyan, M.-V., Duan, X., Middha, S., Atkinson, E. J., Mer, G., Dyck, P. J. <strong>Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.</strong> Neurology 82: 873-878, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24500646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24500646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24500646[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/10.1212/WNL.0000000000000206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24500646">Klein et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24500646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Clinical Features</strong>
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<p><a href="#3" class="mim-tip-reference" title="Vogel, P., Gabriel, M., Goebel, H. H., Dyck, P. J. <strong>Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder?</strong> Ann. Neurol. 17: 455-461, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3859241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3859241</a>] [<a href="https://doi.org/10.1002/ana.410170507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3859241">Vogel et al. (1985)</a> reported a German kinship with clinical features of hereditary motor sensory neuropathy type 2 (HMSN2; see, e.g., CMT2A1; <a href="/entry/118210">118210</a>) characterized by axonal swellings with neurofilament accumulations on peripheral nerve biopsy. There were at least 9 affected family members spanning 5 generations; inheritance was autosomal dominant. Clinical features included pes cavus, gait abnormalities, peroneal muscle weakness and atrophy, hand weakness, hyporeflexia or areflexia, and distal sensory loss of tactile and vibratory sensations. EMG showed chronic denervation, and nerve conduction velocities (NCVs) were normal or mildly decreased. Sural nerve biopsy showed mild reduction in myelinated fibers, occasional small onion bulb formations, and swollen axons with neurofilament accumulation. Three of the most severely affected individuals had evidence of a cardiomyopathy. <a href="#3" class="mim-tip-reference" title="Vogel, P., Gabriel, M., Goebel, H. H., Dyck, P. J. <strong>Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder?</strong> Ann. Neurol. 17: 455-461, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3859241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3859241</a>] [<a href="https://doi.org/10.1002/ana.410170507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3859241">Vogel et al. (1985)</a> distinguished the disorder in this family from autosomal recessive giant axonal neuropathy (GAN1; <a href="/entry/256850">256850</a>) by the mode of inheritance, later age at onset, absence of hair abnormalities, and absence of central nervous system involvement. In a follow-up of the family reported by <a href="#3" class="mim-tip-reference" title="Vogel, P., Gabriel, M., Goebel, H. H., Dyck, P. J. <strong>Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder?</strong> Ann. Neurol. 17: 455-461, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3859241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3859241</a>] [<a href="https://doi.org/10.1002/ana.410170507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3859241">Vogel et al. (1985)</a>, <a href="#1" class="mim-tip-reference" title="Klein, C. J., Wu, Y., Vogel, P., Goebel, H. H., Bonnemann, C., Zukosky, K., Botuyan, M.-V., Duan, X., Middha, S., Atkinson, E. J., Mer, G., Dyck, P. J. <strong>Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.</strong> Neurology 82: 873-878, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24500646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24500646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24500646[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/10.1212/WNL.0000000000000206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24500646">Klein et al. (2014)</a> noted that none of the affected individuals had significant progression of the disorder, but 2 had died from cardiomyopathy-related problems. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3859241+24500646" 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="#2" class="mim-tip-reference" title="Lus, G., Nelis, E., Jordanova, A., Lofgren, A., Cavallaro, T., Ammendola, A., Melone, M. A. B., Rizzuto, N., Timmerman, V., Cotrufo, R., De Jonghe, P. <strong>Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.</strong> Neurology 61: 988-990, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557576</a>] [<a href="https://doi.org/10.1212/wnl.61.7.988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14557576">Lus et al. (2003)</a> reported an Italian family with autosomal dominant inheritance of Charcot-Marie-Tooth disease with giant axons. Clinical features were variable in severity, but included progressive weakness and atrophy of the hands, feet, and legs with a peroneal distribution, generalized hyporeflexia and areflexia, steppage gait, and distal loss of tactile and vibratory sensation. All patients had pes cavus since infancy, but other symptoms developed in adulthood and were slowly progressive. Motor and sensory NCVs were moderately to severely reduced. Sural nerve biopsy of 1 patient showed numerous giant axons with sporadic onion bulb formations. Molecular analysis excluded linkage to known CMT2 loci and mutations in known CMT2 genes, including NEFL (<a href="/entry/162280">162280</a>) and GAN (<a href="/entry/605379">605379</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14557576" 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 the disorder in the families reported by <a href="#3" class="mim-tip-reference" title="Vogel, P., Gabriel, M., Goebel, H. H., Dyck, P. J. <strong>Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder?</strong> Ann. Neurol. 17: 455-461, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3859241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3859241</a>] [<a href="https://doi.org/10.1002/ana.410170507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3859241">Vogel et al. (1985)</a> and <a href="#2" class="mim-tip-reference" title="Lus, G., Nelis, E., Jordanova, A., Lofgren, A., Cavallaro, T., Ammendola, A., Melone, M. A. B., Rizzuto, N., Timmerman, V., Cotrufo, R., De Jonghe, P. <strong>Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.</strong> Neurology 61: 988-990, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557576</a>] [<a href="https://doi.org/10.1212/wnl.61.7.988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14557576">Lus et al. (2003)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3859241+14557576" 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 affected members of a family with GAN2 reported by <a href="#3" class="mim-tip-reference" title="Vogel, P., Gabriel, M., Goebel, H. H., Dyck, P. J. <strong>Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder?</strong> Ann. Neurol. 17: 455-461, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3859241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3859241</a>] [<a href="https://doi.org/10.1002/ana.410170507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3859241">Vogel et al. (1985)</a>, <a href="#1" class="mim-tip-reference" title="Klein, C. J., Wu, Y., Vogel, P., Goebel, H. H., Bonnemann, C., Zukosky, K., Botuyan, M.-V., Duan, X., Middha, S., Atkinson, E. J., Mer, G., Dyck, P. J. <strong>Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.</strong> Neurology 82: 873-878, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24500646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24500646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24500646[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/10.1212/WNL.0000000000000206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24500646">Klein et al. (2014)</a> identified a heterozygous missense mutation in the DCAF8 gene (R317C; <a href="/entry/615820#0001">615820.0001</a>). The mutation was found by whole-exome sequencing and segregated with the disorder in the family. In vitro functional expression assays in HEK293 cells showed that the R317C mutant protein decreased DCAF8 binding to DDB1 (<a href="/entry/600045">600045</a>), indicating a negative impact on recruitment of the E3 ubiquitin ligase complex. <a href="#1" class="mim-tip-reference" title="Klein, C. J., Wu, Y., Vogel, P., Goebel, H. H., Bonnemann, C., Zukosky, K., Botuyan, M.-V., Duan, X., Middha, S., Atkinson, E. J., Mer, G., Dyck, P. J. <strong>Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.</strong> Neurology 82: 873-878, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24500646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24500646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24500646[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/10.1212/WNL.0000000000000206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24500646">Klein et al. (2014)</a> postulated that the mutation caused a defect in E3 ubiquitin ligase-mediated neurofilament degradation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3859241+24500646" 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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Klein, C. J., Wu, Y., Vogel, P., Goebel, H. H., Bonnemann, C., Zukosky, K., Botuyan, M.-V., Duan, X., Middha, S., Atkinson, E. J., Mer, G., Dyck, P. J.
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<strong>Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.</strong>
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Neurology 82: 873-878, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24500646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24500646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24500646[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=24500646" 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/10.1212/WNL.0000000000000206" target="_blank">Full Text</a>]
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Lus, G., Nelis, E., Jordanova, A., Lofgren, A., Cavallaro, T., Ammendola, A., Melone, M. A. B., Rizzuto, N., Timmerman, V., Cotrufo, R., De Jonghe, P.
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<strong>Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.</strong>
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Neurology 61: 988-990, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557576</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14557576" 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/10.1212/wnl.61.7.988" target="_blank">Full Text</a>]
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Vogel, P., Gabriel, M., Goebel, H. H., Dyck, P. J.
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<strong>Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder?</strong>
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Ann. Neurol. 17: 455-461, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3859241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3859241</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3859241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410170507" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 6/5/2014
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Cassandra L. Kniffin : 5/8/2006
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carol : 06/06/2014
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mcolton : 6/6/2014<br>ckniffin : 6/5/2014<br>carol : 8/31/2012<br>carol : 5/12/2006<br>ckniffin : 5/8/2006
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GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT; GAN2
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<strong>ORPHA:</strong> 401964;
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<strong>DO:</strong> 0090069;
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?Giant axonal neuropathy 2, autosomal dominant
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant giant axonal neuropathy-2 (GAN2) is caused by heterozygous mutation in the DCAF8 gene (615820) on chromosome 1q23. One such family has been reported.</p><p>For a discussion of genetic heterogeneity of giant axonal neuropathy, see GAN1 (256850).</p>
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<p>Giant axonal neuropathy-2 is an autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment and lower extremity muscle weakness and atrophy after the second decade. Foot deformities may be present in childhood. More severely affected individuals may develop cardiomyopathy. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation (summary by Klein et al., 2014). </p>
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<p>Vogel et al. (1985) reported a German kinship with clinical features of hereditary motor sensory neuropathy type 2 (HMSN2; see, e.g., CMT2A1; 118210) characterized by axonal swellings with neurofilament accumulations on peripheral nerve biopsy. There were at least 9 affected family members spanning 5 generations; inheritance was autosomal dominant. Clinical features included pes cavus, gait abnormalities, peroneal muscle weakness and atrophy, hand weakness, hyporeflexia or areflexia, and distal sensory loss of tactile and vibratory sensations. EMG showed chronic denervation, and nerve conduction velocities (NCVs) were normal or mildly decreased. Sural nerve biopsy showed mild reduction in myelinated fibers, occasional small onion bulb formations, and swollen axons with neurofilament accumulation. Three of the most severely affected individuals had evidence of a cardiomyopathy. Vogel et al. (1985) distinguished the disorder in this family from autosomal recessive giant axonal neuropathy (GAN1; 256850) by the mode of inheritance, later age at onset, absence of hair abnormalities, and absence of central nervous system involvement. In a follow-up of the family reported by Vogel et al. (1985), Klein et al. (2014) noted that none of the affected individuals had significant progression of the disorder, but 2 had died from cardiomyopathy-related problems. </p><p>Lus et al. (2003) reported an Italian family with autosomal dominant inheritance of Charcot-Marie-Tooth disease with giant axons. Clinical features were variable in severity, but included progressive weakness and atrophy of the hands, feet, and legs with a peroneal distribution, generalized hyporeflexia and areflexia, steppage gait, and distal loss of tactile and vibratory sensation. All patients had pes cavus since infancy, but other symptoms developed in adulthood and were slowly progressive. Motor and sensory NCVs were moderately to severely reduced. Sural nerve biopsy of 1 patient showed numerous giant axons with sporadic onion bulb formations. Molecular analysis excluded linkage to known CMT2 loci and mutations in known CMT2 genes, including NEFL (162280) and GAN (605379). </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of the disorder in the families reported by Vogel et al. (1985) and Lus et al. (2003) was consistent with autosomal dominant inheritance. </p>
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<p>In affected members of a family with GAN2 reported by Vogel et al. (1985), Klein et al. (2014) identified a heterozygous missense mutation in the DCAF8 gene (R317C; 615820.0001). The mutation was found by whole-exome sequencing and segregated with the disorder in the family. In vitro functional expression assays in HEK293 cells showed that the R317C mutant protein decreased DCAF8 binding to DDB1 (600045), indicating a negative impact on recruitment of the E3 ubiquitin ligase complex. Klein et al. (2014) postulated that the mutation caused a defect in E3 ubiquitin ligase-mediated neurofilament degradation. </p>
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<strong>REFERENCES</strong>
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Klein, C. J., Wu, Y., Vogel, P., Goebel, H. H., Bonnemann, C., Zukosky, K., Botuyan, M.-V., Duan, X., Middha, S., Atkinson, E. J., Mer, G., Dyck, P. J.
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<strong>Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.</strong>
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Neurology 82: 873-878, 2014.
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[PubMed: 24500646]
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[Full Text: https://doi.org/10.1212/WNL.0000000000000206]
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Lus, G., Nelis, E., Jordanova, A., Lofgren, A., Cavallaro, T., Ammendola, A., Melone, M. A. B., Rizzuto, N., Timmerman, V., Cotrufo, R., De Jonghe, P.
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<strong>Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.</strong>
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Neurology 61: 988-990, 2003.
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[PubMed: 14557576]
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[Full Text: https://doi.org/10.1212/wnl.61.7.988]
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Vogel, P., Gabriel, M., Goebel, H. H., Dyck, P. J.
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<strong>Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder?</strong>
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Ann. Neurol. 17: 455-461, 1985.
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[PubMed: 3859241]
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[Full Text: https://doi.org/10.1002/ana.410170507]
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Cassandra L. Kniffin - updated : 6/5/2014
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Cassandra L. Kniffin : 5/8/2006
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